A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv965716



Internal ID18600946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:35069175..35071948hg38UCSC Ensembl
Innerchr6:35036952..35039725hg19UCSC Ensembl
Innerchr6:35144930..35147703hg18UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg382774
hg192774
hg182774
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2406261, nssv2406267, nssv2406264, nssv2406268, nssv2406266, nssv2406262, nssv2406263, nssv2406265, nssv2406269, nssv2406260
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesANKS1A
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv965716
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer