nstd27 (Itsara et al. 2009)
- Organism:
- Human
- Study Type:
- Control Set
- Submitter:
- Evan Eichler
- Description:
- We identify large copy-number variants in ~2500 individuals by using Illumina SNP data, with an emphasis on ‘‘hotspots’’ prone to recurrent mutations. See Variant Summary counts for nstd27 in dbVar Variant Summary.
- Publication(s):
- Itsara et al. 2009
Detailed Information: Download 13843 Variant Regions, Download 13843 Variant Calls, Download Both, FTP
Variant Summary
Assembly used for analysis:
Remapped: GRCh38.p12 (hg38)
Remapped: GRCh37.p13 (hg19)
Submitted: NCBI35 (hg17)
| Sequence ID | Chr | Number of Variant Regions | Number of Variant Calls | Placement type | Link to graphical display |
|---|---|---|---|---|---|
| NC_000001.11 | Chr1 | 942 | 942 | Remapped | NC_000001.11 |
| NC_000002.12 | Chr2 | 762 | 762 | Remapped | NC_000002.12 |
| NC_000003.12 | Chr3 | 766 | 766 | Remapped | NC_000003.12 |
| NC_000004.12 | Chr4 | 669 | 669 | Remapped | NC_000004.12 |
| NC_000005.10 | Chr5 | 638 | 638 | Remapped | NC_000005.10 |
| NC_000006.12 | Chr6 | 1,470 | 1,470 | Remapped | NC_000006.12 |
| NC_000007.14 | Chr7 | 922 | 922 | Remapped | NC_000007.14 |
| NC_000008.11 | Chr8 | 688 | 688 | Remapped | NC_000008.11 |
| NC_000009.12 | Chr9 | 599 | 599 | Remapped | NC_000009.12 |
| NC_000010.11 | Chr10 | 842 | 842 | Remapped | NC_000010.11 |
| NC_000011.10 | Chr11 | 1,183 | 1,183 | Remapped | NC_000011.10 |
| NC_000012.12 | Chr12 | 646 | 646 | Remapped | NC_000012.12 |
| NC_000013.11 | Chr13 | 292 | 292 | Remapped | NC_000013.11 |
| NC_000014.9 | Chr14 | 422 | 422 | Remapped | NC_000014.9 |
| NC_000015.10 | Chr15 | 619 | 619 | Remapped | NC_000015.10 |
| NC_000016.10 | Chr16 | 295 | 295 | Remapped | NC_000016.10 |
| NC_000017.11 | Chr17 | 314 | 314 | Remapped | NC_000017.11 |
| NC_000018.10 | Chr18 | 308 | 308 | Remapped | NC_000018.10 |
| NC_000019.10 | Chr19 | 438 | 438 | Remapped | NC_000019.10 |
| NC_000020.11 | Chr20 | 227 | 227 | Remapped | NC_000020.11 |
| NC_000021.9 | Chr21 | 203 | 203 | Remapped | NC_000021.9 |
| NC_000022.11 | Chr22 | 557 | 557 | Remapped | NC_000022.11 |
| NT_187514.1 | Chr1|NT_187514.1 | 1 | 1 | Remapped | NT_187514.1 |
| NT_187515.1 | Chr1|NT_187515.1 | 3 | 3 | Remapped | NT_187515.1 |
| NT_187516.1 | Chr1|NT_187516.1 | 8 | 8 | Remapped | NT_187516.1 |
| NW_003315905.1 | Chr1|NW_003315905.1 | 2 | 2 | Remapped | NW_003315905.1 |
| NW_012132914.1 | Chr1|NW_012132914.1 | 105 | 105 | Remapped | NW_012132914.1 |
| NW_014040927.1 | Chr1|NW_014040927.1 | 1 | 1 | Remapped | NW_014040927.1 |
| NW_017852928.1 | Chr1|NW_017852928.1 | 1 | 1 | Remapped | NW_017852928.1 |
| NW_018654708.1 | Chr1|NW_018654708.1 | 2 | 2 | Remapped | NW_018654708.1 |
| NT_187523.1 | Chr2|NT_187523.1 | 106 | 106 | Remapped | NT_187523.1 |
| NT_187525.1 | Chr2|NT_187525.1 | 1 | 1 | Remapped | NT_187525.1 |
| NT_187529.1 | Chr2|NT_187529.1 | 1 | 1 | Remapped | NT_187529.1 |
| NT_187647.1 | Chr2|NT_187647.1 | 106 | 106 | Remapped | NT_187647.1 |
| NW_003315908.1 | Chr2|NW_003315908.1 | 1 | 1 | Remapped | NW_003315908.1 |
| NW_003315909.1 | Chr2|NW_003315909.1 | 1 | 1 | Remapped | NW_003315909.1 |
| NW_011332689.1 | Chr2|NW_011332689.1 | 3 | 3 | Remapped | NW_011332689.1 |
| NW_011332690.1 | Chr2|NW_011332690.1 | 2 | 2 | Remapped | NW_011332690.1 |
| NT_187678.1 | Chr3|NT_187678.1 | 1 | 1 | Remapped | NT_187678.1 |
| NT_187688.1 | Chr3|NT_187688.1 | 1 | 1 | Remapped | NT_187688.1 |
| NT_187689.1 | Chr3|NT_187689.1 | 1 | 1 | Remapped | NT_187689.1 |
| NT_187690.1 | Chr3|NT_187690.1 | 1 | 1 | Remapped | NT_187690.1 |
| NT_187691.1 | Chr3|NT_187691.1 | 1 | 1 | Remapped | NT_187691.1 |
| NT_187532.1 | Chr3|NT_187532.1 | 1 | 1 | Remapped | NT_187532.1 |
| NT_187534.1 | Chr3|NT_187534.1 | 2 | 2 | Remapped | NT_187534.1 |
| NT_187535.1 | Chr3|NT_187535.1 | 1 | 1 | Remapped | NT_187535.1 |
| NT_187538.1 | Chr3|NT_187538.1 | 2 | 2 | Remapped | NT_187538.1 |
| NT_187649.1 | Chr3|NT_187649.1 | 1 | 1 | Remapped | NT_187649.1 |
| NW_017363813.1 | Chr3|NW_017363813.1 | 1 | 1 | Remapped | NW_017363813.1 |
| NW_019805488.1 | Chr3|NW_019805488.1 | 2 | 2 | Remapped | NW_019805488.1 |
| NW_019805489.1 | Chr3|NW_019805489.1 | 2 | 2 | Remapped | NW_019805489.1 |
| NW_019805490.1 | Chr3|NW_019805490.1 | 1 | 1 | Remapped | NW_019805490.1 |
| NT_187679.1 | Chr4|NT_187679.1 | 2 | 2 | Remapped | NT_187679.1 |
| NT_167250.2 | Chr4|NT_167250.2 | 1 | 1 | Remapped | NT_167250.2 |
| NT_187540.1 | Chr4|NT_187540.1 | 2 | 2 | Remapped | NT_187540.1 |
| NW_003315915.1 | Chr4|NW_003315915.1 | 3 | 3 | Remapped | NW_003315915.1 |
| NW_013171801.1 | Chr4|NW_013171801.1 | 1 | 1 | Remapped | NW_013171801.1 |
| NW_017363814.1 | Chr4|NW_017363814.1 | 1 | 1 | Remapped | NW_017363814.1 |
| NT_187546.1 | Chr5|NT_187546.1 | 2 | 2 | Remapped | NT_187546.1 |
| NT_187547.1 | Chr5|NT_187547.1 | 4 | 4 | Remapped | NT_187547.1 |
| NT_187548.1 | Chr5|NT_187548.1 | 5 | 5 | Remapped | NT_187548.1 |
| NT_187550.1 | Chr5|NT_187550.1 | 4 | 4 | Remapped | NT_187550.1 |
| NT_187551.1 | Chr5|NT_187551.1 | 2 | 2 | Remapped | NT_187551.1 |
| NT_187652.1 | Chr5|NT_187652.1 | 2 | 2 | Remapped | NT_187652.1 |
| NW_009646199.1 | Chr5|NW_009646199.1 | 1 | 1 | Remapped | NW_009646199.1 |
| NW_016107297.1 | Chr5|NW_016107297.1 | 2 | 2 | Remapped | NW_016107297.1 |
| NW_016107298.1 | Chr5|NW_016107298.1 | 9 | 9 | Remapped | NW_016107298.1 |
| NT_167246.2 | Chr6|NT_167246.2 | 201 | 201 | Remapped | NT_167246.2 |
| NT_167247.2 | Chr6|NT_167247.2 | 155 | 155 | Remapped | NT_167247.2 |
| NT_167248.2 | Chr6|NT_167248.2 | 205 | 205 | Remapped | NT_167248.2 |
| NT_167249.2 | Chr6|NT_167249.2 | 200 | 200 | Remapped | NT_167249.2 |
| NT_167245.2 | Chr6|NT_167245.2 | 107 | 107 | Remapped | NT_167245.2 |
| NT_113891.3 | Chr6|NT_113891.3 | 206 | 206 | Remapped | NT_113891.3 |
| NT_167244.2 | Chr6|NT_167244.2 | 77 | 77 | Remapped | NT_167244.2 |
| NT_187552.1 | Chr6|NT_187552.1 | 1 | 1 | Remapped | NT_187552.1 |
| NT_187553.1 | Chr6|NT_187553.1 | 1 | 1 | Remapped | NT_187553.1 |
| NT_187555.1 | Chr6|NT_187555.1 | 2 | 2 | Remapped | NT_187555.1 |
| NW_004166862.2 | Chr6|NW_004166862.2 | 2 | 2 | Remapped | NW_004166862.2 |
| NW_009646200.1 | Chr6|NW_009646200.1 | 1 | 1 | Remapped | NW_009646200.1 |
| NW_012132918.1 | Chr6|NW_012132918.1 | 3 | 3 | Remapped | NW_012132918.1 |
| NW_018654713.1 | Chr6|NW_018654713.1 | 6 | 6 | Remapped | NW_018654713.1 |
| NT_187558.1 | Chr7|NT_187558.1 | 15 | 15 | Remapped | NT_187558.1 |
| NT_187562.1 | Chr7|NT_187562.1 | 391 | 391 | Remapped | NT_187562.1 |
| NT_187653.1 | Chr7|NT_187653.1 | 15 | 15 | Remapped | NT_187653.1 |
| NW_017852929.1 | Chr7|NW_017852929.1 | 2 | 2 | Remapped | NW_017852929.1 |
| NW_018654714.1 | Chr7|NW_018654714.1 | 7 | 7 | Remapped | NW_018654714.1 |
| NW_019805493.1 | Chr7|NW_019805493.1 | 3 | 3 | Remapped | NW_019805493.1 |
| NT_187680.1 | Chr8|NT_187680.1 | 3 | 3 | Remapped | NT_187680.1 |
| NT_187565.1 | Chr8|NT_187565.1 | 1 | 1 | Remapped | NT_187565.1 |
| NT_187568.1 | Chr8|NT_187568.1 | 2 | 2 | Remapped | NT_187568.1 |
| NT_187571.1 | Chr8|NT_187571.1 | 11 | 11 | Remapped | NT_187571.1 |
| NT_187572.1 | Chr8|NT_187572.1 | 1 | 1 | Remapped | NT_187572.1 |
| NT_187573.1 | Chr8|NT_187573.1 | 1 | 1 | Remapped | NT_187573.1 |
| NT_187574.1 | Chr8|NT_187574.1 | 7 | 7 | Remapped | NT_187574.1 |
| NT_187576.1 | Chr8|NT_187576.1 | 56 | 56 | Remapped | NT_187576.1 |
| NW_018654716.1 | Chr8|NW_018654716.1 | 2 | 2 | Remapped | NW_018654716.1 |
| NW_018654717.1 | Chr8|NW_018654717.1 | 31 | 31 | Remapped | NW_018654717.1 |
| NT_187578.1 | Chr9|NT_187578.1 | 1 | 1 | Remapped | NT_187578.1 |
| NW_009646201.1 | Chr9|NW_009646201.1 | 2 | 2 | Remapped | NW_009646201.1 |
| NW_013171804.1 | Chr9|NW_013171804.1 | 1 | 1 | Remapped | NW_013171804.1 |
| NW_013171805.1 | Chr9|NW_013171805.1 | 1 | 1 | Remapped | NW_013171805.1 |
| NW_003315934.1 | Chr10|NW_003315934.1 | 15 | 15 | Remapped | NW_003315934.1 |
| NW_003315935.1 | Chr10|NW_003315935.1 | 1 | 1 | Remapped | NW_003315935.1 |
| NT_187657.1 | Chr11|NT_187657.1 | 2 | 2 | Remapped | NT_187657.1 |
| NT_187581.1 | Chr11|NT_187581.1 | 1 | 1 | Remapped | NT_187581.1 |
| NT_187582.1 | Chr11|NT_187582.1 | 1 | 1 | Remapped | NT_187582.1 |
| NT_187584.1 | Chr11|NT_187584.1 | 2 | 2 | Remapped | NT_187584.1 |
| NT_187585.1 | Chr11|NT_187585.1 | 6 | 6 | Remapped | NT_187585.1 |
| NT_187586.1 | Chr11|NT_187586.1 | 1 | 1 | Remapped | NT_187586.1 |
| NW_003871074.1 | Chr11|NW_003871074.1 | 1 | 1 | Remapped | NW_003871074.1 |
| NW_017363816.1 | Chr11|NW_017363816.1 | 1 | 1 | Remapped | NW_017363816.1 |
| NW_019805497.1 | Chr11|NW_019805497.1 | 2 | 2 | Remapped | NW_019805497.1 |
| NT_187658.1 | Chr12|NT_187658.1 | 1 | 1 | Remapped | NT_187658.1 |
| NT_187587.1 | Chr12|NT_187587.1 | 111 | 111 | Remapped | NT_187587.1 |
| NT_187589.1 | Chr12|NT_187589.1 | 1 | 1 | Remapped | NT_187589.1 |
| NT_187591.1 | Chr12|NT_187591.1 | 1 | 1 | Remapped | NT_187591.1 |
| NW_003571049.1 | Chr12|NW_003571049.1 | 2 | 2 | Remapped | NW_003571049.1 |
| NW_009646204.1 | Chr12|NW_009646204.1 | 2 | 2 | Remapped | NW_009646204.1 |
| NW_011332696.1 | Chr12|NW_011332696.1 | 3 | 3 | Remapped | NW_011332696.1 |
| NW_013171809.1 | Chr12|NW_013171809.1 | 1 | 1 | Remapped | NW_013171809.1 |
| NW_015148967.1 | Chr12|NW_015148967.1 | 1 | 1 | Remapped | NW_015148967.1 |
| NW_018654718.1 | Chr12|NW_018654718.1 | 8 | 8 | Remapped | NW_018654718.1 |
| NT_187595.1 | Chr13|NT_187595.1 | 3 | 3 | Remapped | NT_187595.1 |
| NT_187597.1 | Chr13|NT_187597.1 | 1 | 1 | Remapped | NT_187597.1 |
| NW_011332698.1 | Chr13|NW_011332698.1 | 1 | 1 | Remapped | NW_011332698.1 |
| NW_011332700.1 | Chr13|NW_011332700.1 | 2 | 2 | Remapped | NW_011332700.1 |
| NT_187600.1 | Chr14|NT_187600.1 | 56 | 56 | Remapped | NT_187600.1 |
| NT_187601.1 | Chr14|NT_187601.1 | 5 | 5 | Remapped | NT_187601.1 |
| NW_018654722.1 | Chr14|NW_018654722.1 | 1 | 1 | Remapped | NW_018654722.1 |
| NT_187660.1 | Chr15|NT_187660.1 | 35 | 35 | Remapped | NT_187660.1 |
| NT_187603.1 | Chr15|NT_187603.1 | 23 | 23 | Remapped | NT_187603.1 |
| NT_187605.1 | Chr15|NT_187605.1 | 1 | 1 | Remapped | NT_187605.1 |
| NW_003315944.2 | Chr15|NW_003315944.2 | 1 | 1 | Remapped | NW_003315944.2 |
| NW_011332701.1 | Chr15|NW_011332701.1 | 35 | 35 | Remapped | NW_011332701.1 |
| NT_187607.1 | Chr16|NT_187607.1 | 13 | 13 | Remapped | NT_187607.1 |
| NT_187610.1 | Chr16|NT_187610.1 | 2 | 2 | Remapped | NT_187610.1 |
| NW_017852933.1 | Chr16|NW_017852933.1 | 31 | 31 | Remapped | NW_017852933.1 |
| NW_019805500.1 | Chr16|NW_019805500.1 | 1 | 1 | Remapped | NW_019805500.1 |
| NT_187661.1 | Chr17|NT_187661.1 | 2 | 2 | Remapped | NT_187661.1 |
| NT_187662.1 | Chr17|NT_187662.1 | 1 | 1 | Remapped | NT_187662.1 |
| NT_187663.1 | Chr17|NT_187663.1 | 69 | 69 | Remapped | NT_187663.1 |
| NT_167251.2 | Chr17|NT_167251.2 | 3 | 3 | Remapped | NT_167251.2 |
| NT_187611.1 | Chr17|NT_187611.1 | 1 | 1 | Remapped | NT_187611.1 |
| NT_187614.1 | Chr17|NT_187614.1 | 6 | 6 | Remapped | NT_187614.1 |
| NW_003315952.3 | Chr17|NW_003315952.3 | 1 | 1 | Remapped | NW_003315952.3 |
| NW_003315953.2 | Chr17|NW_003315953.2 | 1 | 1 | Remapped | NW_003315953.2 |
| NW_003315955.1 | Chr17|NW_003315955.1 | 1 | 1 | Remapped | NW_003315955.1 |
| NW_017363817.1 | Chr17|NW_017363817.1 | 2 | 2 | Remapped | NW_017363817.1 |
| NT_187665.1 | Chr18|NT_187665.1 | 1 | 1 | Remapped | NT_187665.1 |
| NT_187666.1 | Chr18|NT_187666.1 | 1 | 1 | Remapped | NT_187666.1 |
| NW_003315958.1 | Chr18|NW_003315958.1 | 1 | 1 | Remapped | NW_003315958.1 |
| NW_003315960.1 | Chr18|NW_003315960.1 | 2 | 2 | Remapped | NW_003315960.1 |
| NW_003315961.1 | Chr18|NW_003315961.1 | 1 | 1 | Remapped | NW_003315961.1 |
| NW_013171814.1 | Chr18|NW_013171814.1 | 2 | 2 | Remapped | NW_013171814.1 |
| NW_018654724.1 | Chr18|NW_018654724.1 | 1 | 1 | Remapped | NW_018654724.1 |
| NW_019805503.1 | Chr18|NW_019805503.1 | 7 | 7 | Remapped | NW_019805503.1 |
| NT_187693.1 | Chr19|NT_187693.1 | 46 | 46 | Remapped | NT_187693.1 |
| NW_003571061.2 | Chr19|NW_003571061.2 | 11 | 11 | Remapped | NW_003571061.2 |
| NW_003571057.2 | Chr19|NW_003571057.2 | 2 | 2 | Remapped | NW_003571057.2 |
| NW_003571058.2 | Chr19|NW_003571058.2 | 2 | 2 | Remapped | NW_003571058.2 |
| NW_003571059.2 | Chr19|NW_003571059.2 | 2 | 2 | Remapped | NW_003571059.2 |
| NW_003571060.1 | Chr19|NW_003571060.1 | 15 | 15 | Remapped | NW_003571060.1 |
| NW_003571056.2 | Chr19|NW_003571056.2 | 2 | 2 | Remapped | NW_003571056.2 |
| NW_003571055.2 | Chr19|NW_003571055.2 | 3 | 3 | Remapped | NW_003571055.2 |
| NT_187622.1 | Chr19|NT_187622.1 | 1 | 1 | Remapped | NT_187622.1 |
| NW_003315962.1 | Chr19|NW_003315962.1 | 12 | 12 | Remapped | NW_003315962.1 |
| NW_003315964.2 | Chr19|NW_003315964.2 | 1 | 1 | Remapped | NW_003315964.2 |
| NW_003571054.1 | Chr19|NW_003571054.1 | 17 | 17 | Remapped | NW_003571054.1 |
| NT_187624.1 | Chr20|NT_187624.1 | 1 | 1 | Remapped | NT_187624.1 |
| NW_003315968.2 | Chr21|NW_003315968.2 | 55 | 55 | Remapped | NW_003315968.2 |
| NW_015148969.1 | Chr22|NW_015148969.1 | 2 | 2 | Remapped | NW_015148969.1 |
| NT_187629.1 | Chr22|NT_187629.1 | 58 | 58 | Remapped | NT_187629.1 |
| NT_187631.1 | Chr22|NT_187631.1 | 1 | 1 | Remapped | NT_187631.1 |
| Sequence ID | Chr | Number of Variant Regions | Number of Variant Calls | Placement type | Link to graphical display |
|---|---|---|---|---|---|
| NC_000001.10 | Chr1 | 942 | 942 | Remapped | NC_000001.10 |
| NC_000002.11 | Chr2 | 762 | 762 | Remapped | NC_000002.11 |
| NC_000003.11 | Chr3 | 766 | 766 | Remapped | NC_000003.11 |
| NC_000004.11 | Chr4 | 669 | 669 | Remapped | NC_000004.11 |
| NC_000005.9 | Chr5 | 638 | 638 | Remapped | NC_000005.9 |
| NC_000006.11 | Chr6 | 1,471 | 1,471 | Remapped | NC_000006.11 |
| NC_000007.13 | Chr7 | 926 | 926 | Remapped | NC_000007.13 |
| NC_000008.10 | Chr8 | 689 | 689 | Remapped | NC_000008.10 |
| NC_000009.11 | Chr9 | 599 | 599 | Remapped | NC_000009.11 |
| NC_000010.10 | Chr10 | 842 | 842 | Remapped | NC_000010.10 |
| NC_000011.9 | Chr11 | 1,182 | 1,182 | Remapped | NC_000011.9 |
| NC_000012.11 | Chr12 | 644 | 644 | Remapped | NC_000012.11 |
| NC_000013.10 | Chr13 | 292 | 292 | Remapped | NC_000013.10 |
| NC_000014.8 | Chr14 | 422 | 422 | Remapped | NC_000014.8 |
| NC_000015.9 | Chr15 | 619 | 619 | Remapped | NC_000015.9 |
| NC_000016.9 | Chr16 | 295 | 295 | Remapped | NC_000016.9 |
| NC_000017.10 | Chr17 | 310 | 310 | Remapped | NC_000017.10 |
| NC_000018.9 | Chr18 | 308 | 308 | Remapped | NC_000018.9 |
| NC_000019.9 | Chr19 | 437 | 437 | Remapped | NC_000019.9 |
| NC_000020.10 | Chr20 | 227 | 227 | Remapped | NC_000020.10 |
| NC_000021.8 | Chr21 | 203 | 203 | Remapped | NC_000021.8 |
| NC_000022.10 | Chr22 | 557 | 557 | Remapped | NC_000022.10 |
| NW_003315905.1 | Chr1|NW_003315905.1 | 2 | 2 | Remapped | NW_003315905.1 |
| NW_003871055.3 | Chr1|NW_003871055.3 | 31 | 31 | Remapped | NW_003871055.3 |
| NW_003871056.3 | Chr1|NW_003871056.3 | 6 | 6 | Remapped | NW_003871056.3 |
| NW_003315908.1 | Chr2|NW_003315908.1 | 1 | 1 | Remapped | NW_003315908.1 |
| NW_003315909.1 | Chr2|NW_003315909.1 | 1 | 1 | Remapped | NW_003315909.1 |
| NW_004504299.1 | Chr2|NW_004504299.1 | 1 | 1 | Remapped | NW_004504299.1 |
| NW_003871058.1 | Chr3|NW_003871058.1 | 2 | 2 | Remapped | NW_003871058.1 |
| NW_003871059.1 | Chr3|NW_003871059.1 | 1 | 1 | Remapped | NW_003871059.1 |
| NW_004775426.1 | Chr3|NW_004775426.1 | 1 | 1 | Remapped | NW_004775426.1 |
| NT_167250.1 | Chr4|NT_167250.1 | 1 | 1 | Remapped | NT_167250.1 |
| NW_003315915.1 | Chr4|NW_003315915.1 | 3 | 3 | Remapped | NW_003315915.1 |
| NW_004775427.1 | Chr4|NW_004775427.1 | 6 | 6 | Remapped | NW_004775427.1 |
| NW_004775428.1 | Chr5|NW_004775428.1 | 7 | 7 | Remapped | NW_004775428.1 |
| NT_113891.2 | Chr6|NT_113891.2 | 206 | 206 | Remapped | NT_113891.2 |
| NT_167244.1 | Chr6|NT_167244.1 | 77 | 77 | Remapped | NT_167244.1 |
| NT_167245.1 | Chr6|NT_167245.1 | 107 | 107 | Remapped | NT_167245.1 |
| NT_167246.1 | Chr6|NT_167246.1 | 201 | 201 | Remapped | NT_167246.1 |
| NT_167247.1 | Chr6|NT_167247.1 | 155 | 155 | Remapped | NT_167247.1 |
| NT_167248.1 | Chr6|NT_167248.1 | 205 | 205 | Remapped | NT_167248.1 |
| NT_167249.1 | Chr6|NT_167249.1 | 199 | 199 | Remapped | NT_167249.1 |
| NW_003871063.1 | Chr6|NW_003871063.1 | 61 | 61 | Remapped | NW_003871063.1 |
| NW_004166862.1 | Chr6|NW_004166862.1 | 2 | 2 | Remapped | NW_004166862.1 |
| NW_003571037.1 | Chr7|NW_003571037.1 | 5 | 5 | Remapped | NW_003571037.1 |
| NW_003571038.1 | Chr7|NW_003571038.1 | 4 | 4 | Remapped | NW_003571038.1 |
| NW_003571040.1 | Chr7|NW_003571040.1 | 394 | 394 | Remapped | NW_003571040.1 |
| NW_003871064.1 | Chr7|NW_003871064.1 | 5 | 5 | Remapped | NW_003871064.1 |
| NW_003315923.1 | Chr8|NW_003315923.1 | 7 | 7 | Remapped | NW_003315923.1 |
| NW_003315924.1 | Chr8|NW_003315924.1 | 2 | 2 | Remapped | NW_003315924.1 |
| NW_003571042.1 | Chr8|NW_003571042.1 | 55 | 55 | Remapped | NW_003571042.1 |
| NW_003315925.1 | Chr9|NW_003315925.1 | 2 | 2 | Remapped | NW_003315925.1 |
| NW_004070868.1 | Chr9|NW_004070868.1 | 3 | 3 | Remapped | NW_004070868.1 |
| NW_004070869.1 | Chr9|NW_004070869.1 | 6 | 6 | Remapped | NW_004070869.1 |
| NW_004504301.1 | Chr9|NW_004504301.1 | 1 | 1 | Remapped | NW_004504301.1 |
| NW_003315934.1 | Chr10|NW_003315934.1 | 14 | 14 | Remapped | NW_003315934.1 |
| NW_003315935.1 | Chr10|NW_003315935.1 | 1 | 1 | Remapped | NW_003315935.1 |
| NW_003871068.1 | Chr10|NW_003871068.1 | 251 | 251 | Remapped | NW_003871068.1 |
| NW_003871071.1 | Chr10|NW_003871071.1 | 4 | 4 | Remapped | NW_003871071.1 |
| NW_004775432.1 | Chr10|NW_004775432.1 | 2 | 2 | Remapped | NW_004775432.1 |
| NW_003571045.1 | Chr11|NW_003571045.1 | 1 | 1 | Remapped | NW_003571045.1 |
| NW_003571046.1 | Chr11|NW_003571046.1 | 1 | 1 | Remapped | NW_003571046.1 |
| NW_003871074.1 | Chr11|NW_003871074.1 | 1 | 1 | Remapped | NW_003871074.1 |
| NW_003871078.1 | Chr11|NW_003871078.1 | 1 | 1 | Remapped | NW_003871078.1 |
| NW_003871081.1 | Chr11|NW_003871081.1 | 2 | 2 | Remapped | NW_003871081.1 |
| NW_004070871.1 | Chr11|NW_004070871.1 | 1 | 1 | Remapped | NW_004070871.1 |
| NW_003571048.1 | Chr12|NW_003571048.1 | 2 | 2 | Remapped | NW_003571048.1 |
| NW_004166863.1 | Chr14|NW_004166863.1 | 103 | 103 | Remapped | NW_004166863.1 |
| NW_003315944.1 | Chr15|NW_003315944.1 | 1 | 1 | Remapped | NW_003315944.1 |
| NT_167251.1 | Chr17|NT_167251.1 | 3 | 3 | Remapped | NT_167251.1 |
| NW_003315949.1 | Chr17|NW_003315949.1 | 2 | 2 | Remapped | NW_003315949.1 |
| NW_003315950.2 | Chr17|NW_003315950.2 | 4 | 4 | Remapped | NW_003315950.2 |
| NW_003315953.1 | Chr17|NW_003315953.1 | 1 | 1 | Remapped | NW_003315953.1 |
| NW_003315955.1 | Chr17|NW_003315955.1 | 1 | 1 | Remapped | NW_003315955.1 |
| NW_003871086.1 | Chr17|NW_003871086.1 | 60 | 60 | Remapped | NW_003871086.1 |
| NW_003871087.1 | Chr17|NW_003871087.1 | 2 | 2 | Remapped | NW_003871087.1 |
| NW_003871089.1 | Chr17|NW_003871089.1 | 1 | 1 | Remapped | NW_003871089.1 |
| NW_004070872.2 | Chr17|NW_004070872.2 | 1 | 1 | Remapped | NW_004070872.2 |
| NW_003315958.1 | Chr18|NW_003315958.1 | 1 | 1 | Remapped | NW_003315958.1 |
| NW_003315960.1 | Chr18|NW_003315960.1 | 2 | 2 | Remapped | NW_003315960.1 |
| NW_003315961.1 | Chr18|NW_003315961.1 | 1 | 1 | Remapped | NW_003315961.1 |
| NW_003315962.1 | Chr19|NW_003315962.1 | 12 | 12 | Remapped | NW_003315962.1 |
| NW_003315964.2 | Chr19|NW_003315964.2 | 1 | 1 | Remapped | NW_003315964.2 |
| NW_003571053.2 | Chr19|NW_003571053.2 | 121 | 121 | Remapped | NW_003571053.2 |
| NW_003571054.1 | Chr19|NW_003571054.1 | 1 | 1 | Remapped | NW_003571054.1 |
| NW_003571055.1 | Chr19|NW_003571055.1 | 1 | 1 | Remapped | NW_003571055.1 |
| NW_003571056.1 | Chr19|NW_003571056.1 | 1 | 1 | Remapped | NW_003571056.1 |
| NW_003571057.1 | Chr19|NW_003571057.1 | 1 | 1 | Remapped | NW_003571057.1 |
| NW_003571058.1 | Chr19|NW_003571058.1 | 1 | 1 | Remapped | NW_003571058.1 |
| NW_003571059.1 | Chr19|NW_003571059.1 | 1 | 1 | Remapped | NW_003571059.1 |
| NW_003571061.1 | Chr19|NW_003571061.1 | 2 | 2 | Remapped | NW_003571061.1 |
| NW_004166865.1 | Chr19|NW_004166865.1 | 29 | 29 | Remapped | NW_004166865.1 |
| NW_003571063.2 | Chr20|NW_003571063.2 | 1 | 1 | Remapped | NW_003571063.2 |
| NW_003315968.1 | Chr21|NW_003315968.1 | 55 | 55 | Remapped | NW_003315968.1 |
| NW_004775435.1 | Chr21|NW_004775435.1 | 1 | 1 | Remapped | NW_004775435.1 |
| NW_003871096.1 | Chr22|NW_003871096.1 | 1 | 1 | Remapped | NW_003871096.1 |
| Sequence ID | Chr | Number of Variant Regions | Number of Variant Calls | Placement type | Link to graphical display |
|---|---|---|---|---|---|
| NC_000001.8 | Chr1 | 942 | 942 | Submitted | NC_000001.8 |
| NC_000002.9 | Chr2 | 762 | 762 | Submitted | NC_000002.9 |
| NC_000003.9 | Chr3 | 766 | 766 | Submitted | NC_000003.9 |
| NC_000004.9 | Chr4 | 669 | 669 | Submitted | NC_000004.9 |
| NC_000005.8 | Chr5 | 638 | 638 | Submitted | NC_000005.8 |
| NC_000006.9 | Chr6 | 1,471 | 1,471 | Submitted | NC_000006.9 |
| NC_000007.11 | Chr7 | 932 | 932 | Submitted | NC_000007.11 |
| NC_000008.9 | Chr8 | 689 | 689 | Submitted | NC_000008.9 |
| NC_000009.9 | Chr9 | 599 | 599 | Submitted | NC_000009.9 |
| NC_000010.8 | Chr10 | 842 | 842 | Submitted | NC_000010.8 |
| NC_000011.8 | Chr11 | 1,183 | 1,183 | Submitted | NC_000011.8 |
| NC_000012.9 | Chr12 | 646 | 646 | Submitted | NC_000012.9 |
| NC_000013.9 | Chr13 | 292 | 292 | Submitted | NC_000013.9 |
| NC_000014.7 | Chr14 | 422 | 422 | Submitted | NC_000014.7 |
| NC_000015.8 | Chr15 | 619 | 619 | Submitted | NC_000015.8 |
| NC_000016.8 | Chr16 | 295 | 295 | Submitted | NC_000016.8 |
| NC_000017.9 | Chr17 | 314 | 314 | Submitted | NC_000017.9 |
| NC_000018.8 | Chr18 | 308 | 308 | Submitted | NC_000018.8 |
| NC_000019.8 | Chr19 | 467 | 467 | Submitted | NC_000019.8 |
| NC_000020.9 | Chr20 | 227 | 227 | Submitted | NC_000020.9 |
| NC_000021.7 | Chr21 | 203 | 203 | Submitted | NC_000021.7 |
| NC_000022.8 | Chr22 | 557 | 557 | Submitted | NC_000022.8 |
| Variant Region remap status | Variant Call remap status | ||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Sequence ID | Chr | Variant Regions on source | Perfect | Good | Pass | Fail | Mult | Variant Calls on source | Perfect | Good | Pass | Fail | Mult |
| NC_000001.8 | Chr1 | 942 | 900 | 2 | 1 | 0 | 39 | 942 | 900 | 2 | 1 | 0 | 39 |
| NC_000002.9 | Chr2 | 762 | 756 | 3 | 0 | 0 | 3 | 762 | 756 | 3 | 0 | 0 | 3 |
| NC_000003.9 | Chr3 | 766 | 756 | 1 | 5 | 0 | 4 | 766 | 756 | 1 | 5 | 0 | 4 |
| NC_000004.9 | Chr4 | 669 | 649 | 9 | 1 | 0 | 10 | 669 | 649 | 9 | 1 | 0 | 10 |
| NC_000005.8 | Chr5 | 638 | 627 | 3 | 1 | 0 | 7 | 638 | 627 | 3 | 1 | 0 | 7 |
| NC_000006.9 | Chr6 | 1,471 | 1,261 | 1 | 1 | 0 | 208 | 1,471 | 1,261 | 1 | 1 | 0 | 208 |
| NC_000007.11 | Chr7 | 932 | 518 | 9 | 3 | 0 | 402 | 932 | 518 | 9 | 3 | 0 | 402 |
| NC_000008.9 | Chr8 | 689 | 617 | 6 | 2 | 0 | 64 | 689 | 617 | 6 | 2 | 0 | 64 |
| NC_000009.9 | Chr9 | 599 | 583 | 2 | 2 | 0 | 12 | 599 | 583 | 2 | 2 | 0 | 12 |
| NC_000010.8 | Chr10 | 842 | 566 | 2 | 2 | 0 | 272 | 842 | 566 | 2 | 2 | 0 | 272 |
| NC_000011.8 | Chr11 | 1,183 | 1,175 | 0 | 2 | 0 | 6 | 1,183 | 1,175 | 0 | 2 | 0 | 6 |
| NC_000012.9 | Chr12 | 646 | 638 | 3 | 5 | 0 | 0 | 646 | 638 | 3 | 5 | 0 | 0 |
| NC_000013.9 | Chr13 | 292 | 290 | 2 | 0 | 0 | 0 | 292 | 290 | 2 | 0 | 0 | 0 |
| NC_000014.7 | Chr14 | 422 | 309 | 10 | 0 | 0 | 103 | 422 | 309 | 10 | 0 | 0 | 103 |
| NC_000015.8 | Chr15 | 619 | 595 | 23 | 0 | 0 | 1 | 619 | 595 | 23 | 0 | 0 | 1 |
| NC_000016.8 | Chr16 | 295 | 294 | 0 | 1 | 0 | 0 | 295 | 294 | 0 | 1 | 0 | 0 |
| NC_000017.9 | Chr17 | 314 | 227 | 1 | 16 | 0 | 70 | 314 | 227 | 1 | 16 | 0 | 70 |
| NC_000018.8 | Chr18 | 308 | 304 | 0 | 0 | 0 | 4 | 308 | 304 | 0 | 0 | 0 | 4 |
| NC_000019.8 | Chr19 | 467 | 302 | 27 | 3 | 0 | 135 | 467 | 302 | 27 | 3 | 0 | 135 |
| NC_000020.9 | Chr20 | 227 | 218 | 7 | 1 | 0 | 1 | 227 | 218 | 7 | 1 | 0 | 1 |
| NC_000021.7 | Chr21 | 203 | 145 | 0 | 2 | 0 | 56 | 203 | 145 | 0 | 2 | 0 | 56 |
| NC_000022.8 | Chr22 | 557 | 554 | 2 | 0 | 0 | 1 | 557 | 554 | 2 | 0 | 0 | 1 |
| Variant Region remap status | Variant Call remap status | ||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Sequence ID | Chr | Variant Regions on source | Perfect | Good | Pass | Fail | Mult | Variant Calls on source | Perfect | Good | Pass | Fail | Mult |
| NC_000001.8 | Chr1 | 942 | 758 | 60 | 1 | 0 | 123 | 942 | 758 | 60 | 1 | 0 | 123 |
| NC_000002.9 | Chr2 | 762 | 616 | 31 | 0 | 0 | 115 | 762 | 616 | 31 | 0 | 0 | 115 |
| NC_000003.9 | Chr3 | 766 | 720 | 33 | 1 | 0 | 12 | 766 | 720 | 33 | 1 | 0 | 12 |
| NC_000004.9 | Chr4 | 669 | 613 | 44 | 2 | 0 | 10 | 669 | 613 | 44 | 2 | 0 | 10 |
| NC_000005.8 | Chr5 | 638 | 591 | 17 | 1 | 0 | 29 | 638 | 591 | 17 | 1 | 0 | 29 |
| NC_000006.9 | Chr6 | 1,471 | 1,228 | 11 | 9 | 1 | 222 | 1,471 | 1,228 | 11 | 9 | 1 | 222 |
| NC_000007.11 | Chr7 | 932 | 446 | 77 | 1 | 0 | 408 | 932 | 446 | 77 | 1 | 0 | 408 |
| NC_000008.9 | Chr8 | 689 | 546 | 19 | 10 | 0 | 114 | 689 | 546 | 19 | 10 | 0 | 114 |
| NC_000009.9 | Chr9 | 599 | 586 | 8 | 0 | 0 | 5 | 599 | 586 | 8 | 0 | 0 | 5 |
| NC_000010.8 | Chr10 | 842 | 815 | 9 | 2 | 0 | 16 | 842 | 815 | 9 | 2 | 0 | 16 |
| NC_000011.8 | Chr11 | 1,183 | 1,137 | 30 | 1 | 0 | 15 | 1,183 | 1,137 | 30 | 1 | 0 | 15 |
| NC_000012.9 | Chr12 | 646 | 512 | 2 | 1 | 0 | 131 | 646 | 512 | 2 | 1 | 0 | 131 |
| NC_000013.9 | Chr13 | 292 | 279 | 4 | 2 | 0 | 7 | 292 | 279 | 4 | 2 | 0 | 7 |
| NC_000014.7 | Chr14 | 422 | 261 | 92 | 7 | 0 | 62 | 422 | 261 | 92 | 7 | 0 | 62 |
| NC_000015.8 | Chr15 | 619 | 549 | 10 | 0 | 0 | 60 | 619 | 549 | 10 | 0 | 0 | 60 |
| NC_000016.8 | Chr16 | 295 | 242 | 6 | 0 | 0 | 47 | 295 | 242 | 6 | 0 | 0 | 47 |
| NC_000017.9 | Chr17 | 314 | 220 | 8 | 5 | 0 | 81 | 314 | 220 | 8 | 5 | 0 | 81 |
| NC_000018.8 | Chr18 | 308 | 290 | 4 | 0 | 0 | 14 | 308 | 290 | 4 | 0 | 0 | 14 |
| NC_000019.8 | Chr19 | 467 | 392 | 44 | 0 | 0 | 31 | 467 | 392 | 44 | 0 | 0 | 31 |
| NC_000020.9 | Chr20 | 227 | 209 | 16 | 1 | 0 | 1 | 227 | 209 | 16 | 1 | 0 | 1 |
| NC_000021.7 | Chr21 | 203 | 129 | 19 | 0 | 0 | 55 | 203 | 129 | 19 | 0 | 0 | 55 |
| NC_000022.8 | Chr22 | 557 | 314 | 179 | 3 | 0 | 61 | 557 | 314 | 179 | 3 | 0 | 61 |
Samplesets
Number of Samplesets: 5
- Sampleset ID:
- 1
- Name:
- PARC-CAP
- Description:
- The PARC samples are a subset of the cohorts used in two statin trials, CAP and PRINCE,27,28 and consist of 960 middle-age (40–70 years) individuals of European descent living in the United States with moderately high levels of total cholesterol. N=283+653=936 after sample quality control.
- Size:
- 283 (sample data not available)
- Organisms:
- Homo sapiens
- Sampleset Phenotype(s):
- None reported
- Sampleset ID:
- 2
- Name:
- PARC-PRINCE
- Description:
- The PARC samples are a subset of the cohorts used in two statin trials, CAP and PRINCE,27,28 and consist of 960 middle-age (40–70 years) individuals of European descent living in the United States with moderately high levels of total cholesterol. N=283+653=936 after sample quality control.
- Size:
- 653 (sample data not available)
- Organisms:
- Homo sapiens
- Sampleset Phenotype(s):
- None reported
- Sampleset ID:
- 3
- Name:
- NINDS-317+240S
- Description:
- Genotype data from NINDS were derived from two sets of neurological disease controls totaling 790 people and consist of individuals of European descent with no family history of or any first-degree relative with amyotrophic lateral sclerosis, ataxia, autism, brain aneurysm, dystonia, Parkinson disease, or schizophrenia. N=226+445=671 after sample quality control.
- Size:
- 226
- Organisms:
- Homo sapiens
- Sampleset Phenotype(s):
- None reported
| Sample ID | Cell Type | Subject ID | Ethnicity | Subject Phenotype |
|---|---|---|---|---|
| NINDS_169 | B-lymphocyte | NINDS_169 | European | Not reported |
| NINDS_119 | B-lymphocyte | NINDS_119 | European | Not reported |
| NINDS_173 | B-lymphocyte | NINDS_173 | European | Not reported |
| NINDS_17 | B-lymphocyte | NINDS_17 | European | Not reported |
| NINDS_165 | B-lymphocyte | NINDS_165 | European | Not reported |
| NINDS_206 | B-lymphocyte | NINDS_206 | European | Not reported |
| NINDS_194 | B-lymphocyte | NINDS_194 | European | Not reported |
| NINDS_166 | B-lymphocyte | NINDS_166 | European | Not reported |
| NINDS_133 | B-lymphocyte | NINDS_133 | European | Not reported |
| NINDS_179 | B-lymphocyte | NINDS_179 | European | Not reported |
| NINDS_167 | B-lymphocyte | NINDS_167 | European | Not reported |
| NINDS_123 | B-lymphocyte | NINDS_123 | European | Not reported |
| NINDS_159 | B-lymphocyte | NINDS_159 | European | Not reported |
| NINDS_106 | B-lymphocyte | NINDS_106 | European | Not reported |
| NINDS_124 | B-lymphocyte | NINDS_124 | European | Not reported |
| NINDS_158 | B-lymphocyte | NINDS_158 | European | Not reported |
| NINDS_200 | B-lymphocyte | NINDS_200 | European | Not reported |
| NINDS_2 | B-lymphocyte | NINDS_2 | European | Not reported |
| NINDS_198 | B-lymphocyte | NINDS_198 | European | Not reported |
| NINDS_105 | B-lymphocyte | NINDS_105 | European | Not reported |
| NINDS_104 | B-lymphocyte | NINDS_104 | European | Not reported |
| NINDS_131 | B-lymphocyte | NINDS_131 | European | Not reported |
| NINDS_193 | B-lymphocyte | NINDS_193 | European | Not reported |
| NINDS_163 | B-lymphocyte | NINDS_163 | European | Not reported |
| NINDS_186 | B-lymphocyte | NINDS_186 | European | Not reported |
| NINDS_118 | B-lymphocyte | NINDS_118 | European | Not reported |
| NINDS_130 | B-lymphocyte | NINDS_130 | European | Not reported |
| NINDS_210 | B-lymphocyte | NINDS_210 | European | Not reported |
| NINDS_160 | B-lymphocyte | NINDS_160 | European | Not reported |
| NINDS_152 | B-lymphocyte | NINDS_152 | European | Not reported |
| NINDS_155 | B-lymphocyte | NINDS_155 | European | Not reported |
| NINDS_100 | B-lymphocyte | NINDS_100 | European | Not reported |
| NINDS_174 | B-lymphocyte | NINDS_174 | European | Not reported |
| NINDS_195 | B-lymphocyte | NINDS_195 | European | Not reported |
| NINDS_156 | B-lymphocyte | NINDS_156 | European | Not reported |
| NINDS_109 | B-lymphocyte | NINDS_109 | European | Not reported |
| NINDS_120 | B-lymphocyte | NINDS_120 | European | Not reported |
| NINDS_127 | B-lymphocyte | NINDS_127 | European | Not reported |
| NINDS_129 | B-lymphocyte | NINDS_129 | European | Not reported |
| NINDS_208 | B-lymphocyte | NINDS_208 | European | Not reported |
| NINDS_19 | B-lymphocyte | NINDS_19 | European | Not reported |
| NINDS_182 | B-lymphocyte | NINDS_182 | European | Not reported |
| NINDS_178 | B-lymphocyte | NINDS_178 | European | Not reported |
| NINDS_132 | B-lymphocyte | NINDS_132 | European | Not reported |
| NINDS_110 | B-lymphocyte | NINDS_110 | European | Not reported |
| NINDS_204 | B-lymphocyte | NINDS_204 | European | Not reported |
| NINDS_111 | B-lymphocyte | NINDS_111 | European | Not reported |
| NINDS_180 | B-lymphocyte | NINDS_180 | European | Not reported |
| NINDS_14 | B-lymphocyte | NINDS_14 | European | Not reported |
| NINDS_151 | B-lymphocyte | NINDS_151 | European | Not reported |
| NINDS_211 | B-lymphocyte | NINDS_211 | European | Not reported |
| NINDS_21 | B-lymphocyte | NINDS_21 | European | Not reported |
| NINDS_192 | B-lymphocyte | NINDS_192 | European | Not reported |
| NINDS_171 | B-lymphocyte | NINDS_171 | European | Not reported |
| NINDS_201 | B-lymphocyte | NINDS_201 | European | Not reported |
| NINDS_13 | B-lymphocyte | NINDS_13 | European | Not reported |
| NINDS_196 | B-lymphocyte | NINDS_196 | European | Not reported |
| NINDS_101 | B-lymphocyte | NINDS_101 | European | Not reported |
| NINDS_209 | B-lymphocyte | NINDS_209 | European | Not reported |
| NINDS_207 | B-lymphocyte | NINDS_207 | European | Not reported |
| NINDS_184 | B-lymphocyte | NINDS_184 | European | Not reported |
| NINDS_12 | B-lymphocyte | NINDS_12 | European | Not reported |
| NINDS_162 | B-lymphocyte | NINDS_162 | European | Not reported |
| NINDS_136 | B-lymphocyte | NINDS_136 | European | Not reported |
| NINDS_181 | B-lymphocyte | NINDS_181 | European | Not reported |
| NINDS_170 | B-lymphocyte | NINDS_170 | European | Not reported |
| NINDS_139 | B-lymphocyte | NINDS_139 | European | Not reported |
| NINDS_205 | B-lymphocyte | NINDS_205 | European | Not reported |
| NINDS_103 | B-lymphocyte | NINDS_103 | European | Not reported |
| NINDS_149 | B-lymphocyte | NINDS_149 | European | Not reported |
| NINDS_117 | B-lymphocyte | NINDS_117 | European | Not reported |
| NINDS_146 | B-lymphocyte | NINDS_146 | European | Not reported |
| NINDS_16 | B-lymphocyte | NINDS_16 | European | Not reported |
| NINDS_172 | B-lymphocyte | NINDS_172 | European | Not reported |
| NINDS_203 | B-lymphocyte | NINDS_203 | European | Not reported |
| NINDS_191 | B-lymphocyte | NINDS_191 | European | Not reported |
| NINDS_183 | B-lymphocyte | NINDS_183 | European | Not reported |
| NINDS_15 | B-lymphocyte | NINDS_15 | European | Not reported |
| NINDS_190 | B-lymphocyte | NINDS_190 | European | Not reported |
| NINDS_135 | B-lymphocyte | NINDS_135 | European | Not reported |
| NINDS_145 | B-lymphocyte | NINDS_145 | European | Not reported |
| NINDS_168 | B-lymphocyte | NINDS_168 | European | Not reported |
| NINDS_112 | B-lymphocyte | NINDS_112 | European | Not reported |
| NINDS_199 | B-lymphocyte | NINDS_199 | European | Not reported |
| NINDS_125 | B-lymphocyte | NINDS_125 | European | Not reported |
| NINDS_18 | B-lymphocyte | NINDS_18 | European | Not reported |
| NINDS_114 | B-lymphocyte | NINDS_114 | European | Not reported |
| NINDS_113 | B-lymphocyte | NINDS_113 | European | Not reported |
| NINDS_115 | B-lymphocyte | NINDS_115 | European | Not reported |
| NINDS_10 | B-lymphocyte | NINDS_10 | European | Not reported |
| NINDS_212 | B-lymphocyte | NINDS_212 | European | Not reported |
| NINDS_142 | B-lymphocyte | NINDS_142 | European | Not reported |
| NINDS_197 | B-lymphocyte | NINDS_197 | European | Not reported |
| NINDS_134 | B-lymphocyte | NINDS_134 | European | Not reported |
| NINDS_202 | B-lymphocyte | NINDS_202 | European | Not reported |
| NINDS_116 | B-lymphocyte | NINDS_116 | European | Not reported |
| NINDS_20 | B-lymphocyte | NINDS_20 | European | Not reported |
| NINDS_189 | B-lymphocyte | NINDS_189 | European | Not reported |
| NINDS_102 | B-lymphocyte | NINDS_102 | European | Not reported |
| NINDS_147 | B-lymphocyte | NINDS_147 | European | Not reported |
- Sampleset ID:
- 4
- Name:
- NINDS-550K
- Description:
- Genotype data from NINDS were derived from two sets of neurological disease controls totaling 790 people and consist of individuals of European descent with no family history of or any first-degree relative with amyotrophic lateral sclerosis, ataxia, autism, brain aneurysm, dystonia, Parkinson disease, or schizophrenia. N=226+445=671 after sample quality control.
- Size:
- 445
- Organisms:
- Homo sapiens
- Sampleset Phenotype(s):
- None reported
| Sample ID | Cell Type | Subject ID | Ethnicity | Subject Phenotype |
|---|---|---|---|---|
| 1780854105_A | B-lymphocyte | 1780854105_A | European | Not reported |
| 1780854341_A | B-lymphocyte | 1780854341_A | European | Not reported |
| 1780854382_A | B-lymphocyte | 1780854382_A | European | Not reported |
| 1780854337_A | B-lymphocyte | 1780854337_A | European | Not reported |
| 1780854202_A | B-lymphocyte | 1780854202_A | European | Not reported |
| 1780854017_A | B-lymphocyte | 1780854017_A | European | Not reported |
| 1780854326_A | B-lymphocyte | 1780854326_A | European | Not reported |
| 1780854184_A | B-lymphocyte | 1780854184_A | European | Not reported |
| 1780854159_A | B-lymphocyte | 1780854159_A | European | Not reported |
| 1780854097_A | B-lymphocyte | 1780854097_A | European | Not reported |
| 1780854401_A | B-lymphocyte | 1780854401_A | European | Not reported |
| 1780854392_A | B-lymphocyte | 1780854392_A | European | Not reported |
| 1780854327_A | B-lymphocyte | 1780854327_A | European | Not reported |
| 1780854416_A | B-lymphocyte | 1780854416_A | European | Not reported |
| 1780854391_A | B-lymphocyte | 1780854391_A | European | Not reported |
| 1780854090_A | B-lymphocyte | 1780854090_A | European | Not reported |
| 1780854016_A | B-lymphocyte | 1780854016_A | European | Not reported |
| 1780854278_A | B-lymphocyte | 1780854278_A | European | Not reported |
| 1780854336_A | B-lymphocyte | 1780854336_A | European | Not reported |
| 1780854393_A | B-lymphocyte | 1780854393_A | European | Not reported |
| 1780854128_A | B-lymphocyte | 1780854128_A | European | Not reported |
| 1780846321_A | B-lymphocyte | 1780846321_A | European | Not reported |
| 1780846320_A | B-lymphocyte | 1780846320_A | European | Not reported |
| 1780854079_A | B-lymphocyte | 1780854079_A | European | Not reported |
| 1780854038_A | B-lymphocyte | 1780854038_A | European | Not reported |
| 1780846029_A | B-lymphocyte | 1780846029_A | European | Not reported |
| 1780854058_A | B-lymphocyte | 1780854058_A | European | Not reported |
| 1780854198_A | B-lymphocyte | 1780854198_A | European | Not reported |
| 1780854009_A | B-lymphocyte | 1780854009_A | European | Not reported |
| 1780854279_A | B-lymphocyte | 1780854279_A | European | Not reported |
| 1780854261_A | B-lymphocyte | 1780854261_A | European | Not reported |
| 1780846322_A | B-lymphocyte | 1780846322_A | European | Not reported |
| 1780854253_A | B-lymphocyte | 1780854253_A | European | Not reported |
| 1780854318_A | B-lymphocyte | 1780854318_A | European | Not reported |
| 1780854185_A | B-lymphocyte | 1780854185_A | European | Not reported |
| 1780854257_A | B-lymphocyte | 1780854257_A | European | Not reported |
| 1780854357_A | B-lymphocyte | 1780854357_A | European | Not reported |
| 1780854340_A | B-lymphocyte | 1780854340_A | European | Not reported |
| 1780854081_A | B-lymphocyte | 1780854081_A | European | Not reported |
| 1780846004_A | B-lymphocyte | 1780846004_A | European | Not reported |
| 1780854296_A | B-lymphocyte | 1780854296_A | European | Not reported |
| 1780854098_A | B-lymphocyte | 1780854098_A | European | Not reported |
| 1780854100_A | B-lymphocyte | 1780854100_A | European | Not reported |
| 1780854305_A | B-lymphocyte | 1780854305_A | European | Not reported |
| 1780854288_A | B-lymphocyte | 1780854288_A | European | Not reported |
| 1780854210_A | B-lymphocyte | 1780854210_A | European | Not reported |
| 1780854196_A | B-lymphocyte | 1780854196_A | European | Not reported |
| 1780854065_A | B-lymphocyte | 1780854065_A | European | Not reported |
| 1780854294_A | B-lymphocyte | 1780854294_A | European | Not reported |
| 1780854205_A | B-lymphocyte | 1780854205_A | European | Not reported |
| 1780854123_A | B-lymphocyte | 1780854123_A | European | Not reported |
| 1780854023_A | B-lymphocyte | 1780854023_A | European | Not reported |
| 1780854158_A | B-lymphocyte | 1780854158_A | European | Not reported |
| 1780854235_A | B-lymphocyte | 1780854235_A | European | Not reported |
| 1780854063_A | B-lymphocyte | 1780854063_A | European | Not reported |
| 1780854179_A | B-lymphocyte | 1780854179_A | European | Not reported |
| 1780854129_A | B-lymphocyte | 1780854129_A | European | Not reported |
| 1780854117_A | B-lymphocyte | 1780854117_A | European | Not reported |
| 1780854313_A | B-lymphocyte | 1780854313_A | European | Not reported |
| 1780854101_A | B-lymphocyte | 1780854101_A | European | Not reported |
| 1780854206_A | B-lymphocyte | 1780854206_A | European | Not reported |
| 1780854325_A | B-lymphocyte | 1780854325_A | European | Not reported |
| 1780846005_A | B-lymphocyte | 1780846005_A | European | Not reported |
| 1780854293_A | B-lymphocyte | 1780854293_A | European | Not reported |
| 1780854095_A | B-lymphocyte | 1780854095_A | European | Not reported |
| 1780854354_A | B-lymphocyte | 1780854354_A | European | Not reported |
| 1780854295_A | B-lymphocyte | 1780854295_A | European | Not reported |
| 1780846030_A | B-lymphocyte | 1780846030_A | European | Not reported |
| 1780854339_A | B-lymphocyte | 1780854339_A | European | Not reported |
| 1780854103_A | B-lymphocyte | 1780854103_A | European | Not reported |
| 1780854384_A | B-lymphocyte | 1780854384_A | European | Not reported |
| 1780854418_A | B-lymphocyte | 1780854418_A | European | Not reported |
| 1780854362_A | B-lymphocyte | 1780854362_A | European | Not reported |
| 1780854338_A | B-lymphocyte | 1780854338_A | European | Not reported |
| 1780854216_A | B-lymphocyte | 1780854216_A | European | Not reported |
| 1780854255_A | B-lymphocyte | 1780854255_A | European | Not reported |
| 1780854299_A | B-lymphocyte | 1780854299_A | European | Not reported |
| 1780854130_A | B-lymphocyte | 1780854130_A | European | Not reported |
| 1780854061_A | B-lymphocyte | 1780854061_A | European | Not reported |
| 1780854322_A | B-lymphocyte | 1780854322_A | European | Not reported |
| 1780854328_A | B-lymphocyte | 1780854328_A | European | Not reported |
| 1780854197_A | B-lymphocyte | 1780854197_A | European | Not reported |
| 1780854080_A | B-lymphocyte | 1780854080_A | European | Not reported |
| 1780854334_A | B-lymphocyte | 1780854334_A | European | Not reported |
| 1780854039_A | B-lymphocyte | 1780854039_A | European | Not reported |
| 1780854419_A | B-lymphocyte | 1780854419_A | European | Not reported |
| 1780854127_A | B-lymphocyte | 1780854127_A | European | Not reported |
| 1780854219_A | B-lymphocyte | 1780854219_A | European | Not reported |
| 1780854264_A | B-lymphocyte | 1780854264_A | European | Not reported |
| 1780854238_A | B-lymphocyte | 1780854238_A | European | Not reported |
| 1780854215_A | B-lymphocyte | 1780854215_A | European | Not reported |
| 1780854302_A | B-lymphocyte | 1780854302_A | European | Not reported |
| 1780854096_A | B-lymphocyte | 1780854096_A | European | Not reported |
| 1780854417_A | B-lymphocyte | 1780854417_A | European | Not reported |
| 1780854335_A | B-lymphocyte | 1780854335_A | European | Not reported |
| 1780854260_A | B-lymphocyte | 1780854260_A | European | Not reported |
| 1780854231_A | B-lymphocyte | 1780854231_A | European | Not reported |
| 1780854430_A | B-lymphocyte | 1780854430_A | European | Not reported |
| 1780854176_A | B-lymphocyte | 1780854176_A | European | Not reported |
| 1780854118_A | B-lymphocyte | 1780854118_A | European | Not reported |
- Sampleset ID:
- 5
- Name:
- HGDP
- Description:
- The HGDP consists of 1064 individuals sampled from 51 different world populations. Our analysis of the HGDP cohort was restricted to a subset of individuals previously identified to exclude likely pairs of second-degree relatives. N=886 after sample quality control. Illumina 650Y data from PMID:18292342.
- Size:
- 886
- Organisms:
- Homo sapiens
- Sampleset Phenotype(s):
- None reported
| Sample ID | Subject ID | Sex | Ethnicity | Subject Phenotype |
|---|---|---|---|---|
| HGDP00080 | HGDP00080 | Male | Balochi | Not reported |
| HGDP00074 | HGDP00074 | Male | Balochi | Not reported |
| HGDP00108 | HGDP00108 | Male | Hazara | Not reported |
| HGDP00169 | HGDP00169 | Male | Sindhi | Not reported |
| HGDP00144 | HGDP00144 | Male | Makrani | Not reported |
| HGDP00064 | HGDP00064 | Male | Balochi | Not reported |
| HGDP00146 | HGDP00146 | Male | Makrani | Not reported |
| HGDP00099 | HGDP00099 | Male | Hazara | Not reported |
| HGDP00160 | HGDP00160 | Male | Makrani | Not reported |
| HGDP00173 | HGDP00173 | Male | Sindhi | Not reported |
| HGDP00157 | HGDP00157 | Female | Makrani | Not reported |
| HGDP00027 | HGDP00027 | Male | Brahui | Not reported |
| HGDP00031 | HGDP00031 | Male | Brahui | Not reported |
| HGDP00092 | HGDP00092 | Male | Balochi | Not reported |
| HGDP00019 | HGDP00019 | Male | Brahui | Not reported |
| HGDP00124 | HGDP00124 | Male | Hazara | Not reported |
| HGDP00021 | HGDP00021 | Male | Brahui | Not reported |
| HGDP00158 | HGDP00158 | Male | Makrani | Not reported |
| HGDP00135 | HGDP00135 | Male | Makrani | Not reported |
| HGDP00125 | HGDP00125 | Male | Hazara | Not reported |
| HGDP00005 | HGDP00005 | Male | Brahui | Not reported |
| HGDP00054 | HGDP00054 | Male | Balochi | Not reported |
| HGDP00049 | HGDP00049 | Male | Brahui | Not reported |
| HGDP00116 | HGDP00116 | Male | Hazara | Not reported |
| HGDP00052 | HGDP00052 | Male | Balochi | Not reported |
| HGDP00167 | HGDP00167 | Male | Sindhi | Not reported |
| HGDP00131 | HGDP00131 | Male | Makrani | Not reported |
| HGDP00082 | HGDP00082 | Male | Balochi | Not reported |
| HGDP00161 | HGDP00161 | Male | Makrani | Not reported |
| HGDP00171 | HGDP00171 | Male | Sindhi | Not reported |
| HGDP00029 | HGDP00029 | Male | Brahui | Not reported |
| HGDP00127 | HGDP00127 | Male | Hazara | Not reported |
| HGDP00009 | HGDP00009 | Male | Brahui | Not reported |
| HGDP00110 | HGDP00110 | Male | Hazara | Not reported |
| HGDP00045 | HGDP00045 | Male | Brahui | Not reported |
| HGDP00106 | HGDP00106 | Male | Hazara | Not reported |
| HGDP00122 | HGDP00122 | Male | Hazara | Not reported |
| HGDP00150 | HGDP00150 | Male | Makrani | Not reported |
| HGDP00121 | HGDP00121 | Male | Hazara | Not reported |
| HGDP00118 | HGDP00118 | Male | Hazara | Not reported |
| HGDP00070 | HGDP00070 | Male | Balochi | Not reported |
| HGDP00139 | HGDP00139 | Male | Makrani | Not reported |
| HGDP00041 | HGDP00041 | Male | Brahui | Not reported |
| HGDP00151 | HGDP00151 | Female | Makrani | Not reported |
| HGDP00011 | HGDP00011 | Male | Brahui | Not reported |
| HGDP00086 | HGDP00086 | Male | Balochi | Not reported |
| HGDP00102 | HGDP00102 | Male | Hazara | Not reported |
| HGDP00003 | HGDP00003 | Male | Brahui | Not reported |
| HGDP00141 | HGDP00141 | Male | Makrani | Not reported |
| HGDP00076 | HGDP00076 | Male | Balochi | Not reported |
| HGDP00154 | HGDP00154 | Female | Makrani | Not reported |
| HGDP00148 | HGDP00148 | Male | Makrani | Not reported |
| HGDP00047 | HGDP00047 | Male | Brahui | Not reported |
| HGDP00001 | HGDP00001 | Male | Brahui | Not reported |
| HGDP00165 | HGDP00165 | Male | Sindhi | Not reported |
| HGDP00134 | HGDP00134 | Male | Makrani | Not reported |
| HGDP00133 | HGDP00133 | Male | Makrani | Not reported |
| HGDP00155 | HGDP00155 | Female | Makrani | Not reported |
| HGDP00025 | HGDP00025 | Male | Brahui | Not reported |
| HGDP00120 | HGDP00120 | Male | Hazara | Not reported |
| HGDP00175 | HGDP00175 | Male | Sindhi | Not reported |
| HGDP00090 | HGDP00090 | Male | Balochi | Not reported |
| HGDP00058 | HGDP00058 | Male | Balochi | Not reported |
| HGDP00066 | HGDP00066 | Male | Balochi | Not reported |
| HGDP00137 | HGDP00137 | Male | Makrani | Not reported |
| HGDP00105 | HGDP00105 | Male | Hazara | Not reported |
| HGDP00057 | HGDP00057 | Male | Balochi | Not reported |
| HGDP00094 | HGDP00094 | Male | Balochi | Not reported |
| HGDP00068 | HGDP00068 | Male | Balochi | Not reported |
| HGDP00129 | HGDP00129 | Male | Hazara | Not reported |
| HGDP00007 | HGDP00007 | Male | Brahui | Not reported |
| HGDP00098 | HGDP00098 | Male | Balochi | Not reported |
| HGDP00109 | HGDP00109 | Male | Hazara | Not reported |
| HGDP00078 | HGDP00078 | Male | Balochi | Not reported |
| HGDP00039 | HGDP00039 | Male | Brahui | Not reported |
| HGDP00143 | HGDP00143 | Male | Makrani | Not reported |
| HGDP00130 | HGDP00130 | Male | Makrani | Not reported |
| HGDP00140 | HGDP00140 | Male | Makrani | Not reported |
| HGDP00023 | HGDP00023 | Male | Brahui | Not reported |
| HGDP00062 | HGDP00062 | Male | Balochi | Not reported |
| HGDP00056 | HGDP00056 | Male | Balochi | Not reported |
| HGDP00100 | HGDP00100 | Male | Hazara | Not reported |
| HGDP00136 | HGDP00136 | Male | Makrani | Not reported |
| HGDP00088 | HGDP00088 | Male | Balochi | Not reported |
| HGDP00033 | HGDP00033 | Male | Brahui | Not reported |
| HGDP00017 | HGDP00017 | Male | Brahui | Not reported |
| HGDP00096 | HGDP00096 | Male | Balochi | Not reported |
| HGDP00035 | HGDP00035 | Male | Brahui | Not reported |
| HGDP00060 | HGDP00060 | Male | Balochi | Not reported |
| HGDP00149 | HGDP00149 | Male | Makrani | Not reported |
| HGDP00112 | HGDP00112 | Male | Hazara | Not reported |
| HGDP00103 | HGDP00103 | Male | Hazara | Not reported |
| HGDP00104 | HGDP00104 | Male | Hazara | Not reported |
| HGDP00072 | HGDP00072 | Male | Balochi | Not reported |
| HGDP00037 | HGDP00037 | Male | Brahui | Not reported |
| HGDP00153 | HGDP00153 | Female | Makrani | Not reported |
| HGDP00013 | HGDP00013 | Male | Brahui | Not reported |
| HGDP00145 | HGDP00145 | Male | Makrani | Not reported |
| HGDP00015 | HGDP00015 | Male | Brahui | Not reported |
| HGDP00043 | HGDP00043 | Male | Brahui | Not reported |
Experimental Details
| Experiment ID | Type | Method | Analysis | Number of Variant Calls |
|---|---|---|---|---|
| 1 | Discovery | SNP array | SNP genotyping analysis | 13,843 |
| 2 | Validation | Oligo aCGH | Probe signal intensity | 75 |
Validations
| Experiment ID | Method | Analysis | Number of Variant Calls Validated |
|---|---|---|---|
| 2 | Oligo aCGH | Probe signal intensity | 75 |