A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv968983



Internal ID18604211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:123624842..123640337hg38UCSC Ensembl
Innerchr5:122960536..122976031hg19UCSC Ensembl
Innerchr5:122988435..123003930hg18UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg3815496
hg1915496
hg1815496
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2374816, nssv2374813, nssv2374818, nssv2374815, nssv2374812, nssv2374819, nssv2374811, nssv2374814, nssv2374810, nssv2374817
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv968983
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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