nsv1048232
- Organism: Homo sapiens
- Study:nstd100 (Coe et al. 2014)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:201,875
- Publication(s):Coe et al. 2014
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 885 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 883 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 337 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 238 SVs from 20 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv1048232 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 26,861 | 228,735 |
| nsv1048232 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000010.10 | Chr10 | 72,797 | 274,675 |
| nsv1048232 | Remapped | Pass | GRCh37.p13 | PATCHES | First Pass | NW_003571043.1 | Chr10|NW_0 03571043.1 | 34,336 | 168,465 |
| nsv1048232 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000010.9 | Chr10 | 62,797 | 264,675 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv3501067 | copy number gain | SNP array | Probe signal intensity |
| nssv3502241 | copy number gain | SNP array | Probe signal intensity |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv3501067 | Remapped | Good | NC_000010.11:g.(?_ 26861)_(228735_?)d up | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 26,861 | 228,735 |
| nssv3502241 | Remapped | Good | NC_000010.11:g.(?_ 26861)_(228735_?)d up | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 26,861 | 228,735 |
| nssv3501067 | Remapped | Pass | NW_003571043.1:g.( ?_34336)_(168465_? )dup | GRCh37.p13 | First Pass | NW_003571043.1 | Chr10|NW_0 03571043.1 | 34,336 | 168,465 |
| nssv3502241 | Remapped | Pass | NW_003571043.1:g.( ?_34336)_(168465_? )dup | GRCh37.p13 | First Pass | NW_003571043.1 | Chr10|NW_0 03571043.1 | 34,336 | 168,465 |
| nssv3501067 | Remapped | Perfect | NC_000010.10:g.(?_ 72797)_(274675_?)d up | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 72,797 | 274,675 |
| nssv3502241 | Remapped | Perfect | NC_000010.10:g.(?_ 72797)_(274675_?)d up | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 72,797 | 274,675 |
| nssv3501067 | Submitted genomic | NC_000010.9:g.(?_6 2797)_(264675_?)du p | NCBI36 (hg18) | NC_000010.9 | Chr10 | 62,797 | 264,675 | ||
| nssv3502241 | Submitted genomic | NC_000010.9:g.(?_6 2797)_(264675_?)du p | NCBI36 (hg18) | NC_000010.9 | Chr10 | 62,797 | 264,675 |