A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv962316



Internal ID18250874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:37976156..37992351hg38UCSC Ensembl
Innerchr17:36336025..36350387hg19UCSC Ensembl
Innerchr17:33409034..33426282hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3816196
hg1914363
hg1817249
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2092768, nssv2092761, nssv2092765, nssv2092767, nssv2092766, nssv2092760, nssv2092762, nssv2092763, nssv2092764, nssv2092769
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesTBC1D3, TBC1D3C, TBC1D3F, TBC1D3H
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv962316
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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