A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv568996



Internal ID16009719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:34426393..34506266hg38UCSC Ensembl
Innerchr15:34718594..34798467hg19UCSC Ensembl
Innerchr15:32505886..32585759hg18UCSC Ensembl
Cytoband15q14
Allele length
AssemblyAllele length
hg3879874
hg1979874
hg1879874
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4472n54
Supporting Variantsnssv839895, nssv1149004, nssv1148980, nssv1149006, nssv839894, nssv1148982, nssv1148987, nssv1148996, nssv1149008, nssv839904, nssv1148998, nssv1148997, nssv1149001, nssv1148985, nssv1149011, nssv1148993, nssv1148991, nssv1148988, nssv839898, nssv1149007, nssv839892, nssv1148983, nssv1148981, nssv1148992, nssv839903, nssv1148994, nssv839897, nssv839901, nssv1149009, nssv1148995, nssv839900, nssv1149010, nssv1149003, nssv1148986, nssv1148999, nssv1148990, nssv1148984, nssv839896, nssv1149000, nssv1149005, nssv839899, nssv1149002, nssv1148989, nssv839902, nssv839893
SamplesHGDP01087, HGDP00133, HGDP00267, 1798860210_A, HGDP00545, HGDP00258, HGDP00881, 1780854294_A, HGDP00151, NINDS_147, HGDP00756, NINDS_109, 1787431198_A, HGDP01412, 1782681076_A, NINDS_129, 1798860049_A, 1780862461_A, HGDP00251, HGDP00903, HGDP01073, NINDS_200, HGDP01253, HGDP01405, HGDP00203, HGDP00635, HGDP01386, HGDP00070, 1798860277_A, HGDP00801, 1780862094_A, HGDP00515
Known GenesGOLGA8A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv568996
Frequency
Sample Size17421
Observed Gain0
Observed Loss45
Observed Complex0
Frequencyn/a


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