nstd45

Organism:
Human
Study Type:
Curated Collection
Submitter:
ISCA Consortium 
Submitter URL:
http://iscaconsortium.org
Description:
International Standards for Cytogenomic Arrays Consortium (CURATED DATASET)
Project:
42509
Publication(s):
Miller et al. 2010Kaminsky et al. 2011

Detailed Information: Download 57 Variant Regions, Download 84 Variant Calls, Download Both, FTP

Variant Summary

Assembly used for analysis:
Remapped: GRCh38
Remapped: GRCh37.p13 (hg19)
Submitted: NCBI36 (hg18)

Sequence IDChrNumber of Variant RegionsNumber of Variant CallsPlacement typeLink to graphical display
NC_000001.11Chr146RemappedNC_000001.11
NC_000002.12Chr267RemappedNC_000002.12
NT_187523.1Chr2|NT_187523.112RemappedNT_187523.1
NT_187647.1Chr2|NT_187647.112RemappedNT_187647.1
NC_000003.12Chr311RemappedNC_000003.12
NC_000004.12Chr411RemappedNC_000004.12
NC_000005.10Chr522RemappedNC_000005.10
NC_000006.12Chr612RemappedNC_000006.12
NC_000007.14Chr723RemappedNC_000007.14
NC_000008.11Chr834RemappedNC_000008.11
NC_000009.12Chr911RemappedNC_000009.12
NC_000010.11Chr1024RemappedNC_000010.11
NC_000011.10Chr1122RemappedNC_000011.10
NC_000012.12Chr1211RemappedNC_000012.12
NC_000014.9Chr1424RemappedNC_000014.9
NT_187600.1Chr14|NT_187600.112RemappedNT_187600.1
NC_000015.10Chr15710RemappedNC_000015.10
NT_187660.1Chr15|NT_187660.111RemappedNT_187660.1
NC_000016.10Chr1645RemappedNC_000016.10
NT_187607.1Chr16|NT_187607.111RemappedNT_187607.1
NC_000017.11Chr1769RemappedNC_000017.11
NT_167251.2Chr17|NT_167251.211RemappedNT_167251.2
NT_187614.1Chr17|NT_187614.112RemappedNT_187614.1
NT_187663.1Chr17|NT_187663.111RemappedNT_187663.1
NC_000019.10Chr1912RemappedNC_000019.10
NC_000022.11Chr2257RemappedNC_000022.11
NC_000023.11ChrX410RemappedNC_000023.11
NC_000024.10ChrY11RemappedNC_000024.10
Sequence IDChrNumber of Variant RegionsNumber of Variant CallsPlacement typeLink to graphical display
NC_000001.10Chr146RemappedNC_000001.10
NC_000002.11Chr267RemappedNC_000002.11
NC_000003.11Chr311RemappedNC_000003.11
NC_000004.11Chr411RemappedNC_000004.11
NC_000005.9Chr522RemappedNC_000005.9
NC_000006.11Chr612RemappedNC_000006.11
NC_000007.13Chr723RemappedNC_000007.13
NC_000008.10Chr834RemappedNC_000008.10
NC_000009.11Chr911RemappedNC_000009.11
NC_000010.10Chr1024RemappedNC_000010.10
NC_000011.9Chr1122RemappedNC_000011.9
NC_000012.11Chr1211RemappedNC_000012.11
NC_000014.8Chr1424RemappedNC_000014.8
NC_000015.9Chr15710RemappedNC_000015.9
NC_000016.9Chr1645RemappedNC_000016.9
NC_000017.10Chr17711RemappedNC_000017.10
NC_000019.9Chr1912RemappedNC_000019.9
NC_000022.10Chr2257RemappedNC_000022.10
NC_000023.10ChrX410RemappedNC_000023.10
NC_000024.9ChrY11RemappedNC_000024.9
NW_003871055.3Chr1|NW_003871055.335RemappedNW_003871055.3
NW_003871064.1Chr7|NW_003871064.112RemappedNW_003871064.1
NW_004166863.1Chr14|NW_004166863.112RemappedNW_004166863.1
NT_167251.1Chr17|NT_167251.111RemappedNT_167251.1
Sequence IDChrNumber of Variant RegionsNumber of Variant CallsPlacement typeLink to graphical display
NC_000001.9Chr146SubmittedNC_000001.9
NC_000002.10Chr267SubmittedNC_000002.10
NC_000003.10Chr311SubmittedNC_000003.10
NC_000004.10Chr411SubmittedNC_000004.10
NC_000005.8Chr522SubmittedNC_000005.8
NC_000006.10Chr612SubmittedNC_000006.10
NC_000007.12Chr723SubmittedNC_000007.12
NC_000008.9Chr834SubmittedNC_000008.9
NC_000009.10Chr911SubmittedNC_000009.10
NC_000010.9Chr1024SubmittedNC_000010.9
NC_000011.8Chr1122SubmittedNC_000011.8
NC_000012.10Chr1211SubmittedNC_000012.10
NC_000014.7Chr1424SubmittedNC_000014.7
NC_000015.8Chr15710SubmittedNC_000015.8
NC_000016.8Chr1645SubmittedNC_000016.8
NC_000017.9Chr17711SubmittedNC_000017.9
NC_000019.8Chr1912SubmittedNC_000019.8
NC_000022.9Chr2257SubmittedNC_000022.9
NC_000023.9ChrX410SubmittedNC_000023.9
NC_000024.8ChrY11SubmittedNC_000024.8

Variant Region remap statusVariant Call remap status
Sequence IDChrVariant Regions on sourcePerfectGoodPassFailMultVariant Calls on sourcePerfectGoodPassFailMult
NC_000001.9Chr1401003601005
NC_000002.10Chr2651000761000
NC_000003.10Chr3110000110000
NC_000004.10Chr4101000101000
NC_000005.8Chr5220000220000
NC_000006.10Chr6110000220000
NC_000007.12Chr7210001310002
NC_000008.9Chr8321000422000
NC_000009.10Chr9110000110000
NC_000010.9Chr10210100420200
NC_000011.8Chr11220000220000
NC_000012.10Chr12110000110000
NC_000014.7Chr14210001420002
NC_000015.8Chr157430001055000
NC_000016.8Chr16440000550000
NC_000017.9Chr177330011155001
NC_000019.8Chr19110000220000
NC_000022.9Chr22541000752000
NC_000023.9ChrX44000010100000
NC_000024.8ChrY110000110000
Variant Region remap statusVariant Call remap status
Sequence IDChrVariant Regions on sourcePerfectGoodPassFailMultVariant Calls on sourcePerfectGoodPassFailMult
NC_000001.9Chr1402200603300
NC_000002.10Chr2641001741002
NC_000003.10Chr3110000110000
NC_000004.10Chr4101000101000
NC_000005.8Chr5211000211000
NC_000006.10Chr6110000220000
NC_000007.12Chr7211000312000
NC_000008.9Chr8321000422000
NC_000009.10Chr9101000101000
NC_000010.9Chr10200200400400
NC_000011.8Chr11220000220000
NC_000012.10Chr12110000110000
NC_000014.7Chr14201001402002
NC_000015.8Chr157312011042301
NC_000016.8Chr16430001540001
NC_000017.9Chr177330011155001
NC_000019.8Chr19110000220000
NC_000022.9Chr22512200712400
NC_000023.9ChrX4310001082000
NC_000024.8ChrY101000101000

Samplesets

Number of Samplesets: 1

Name:
ISCA curated clinically relevant regions for cytogenetic testing
Description:
Annotated clinically relevant regions used in interpretation of cytogenetic testing
Size:
0 (sample data not available)
Organisms:
Homo sapiens
Sampleset Phenotype(s):
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing

Experimental Details

Experiment IDTypeMethodAnalysisNumber of Variant Calls
1DiscoveryCuratedCurated84

Validations

There are no validation data for this study.

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