A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964927



Internal ID18600162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:116716207..116716945hg38UCSC Ensembl
Innerchr5:116051903..116052641hg19UCSC Ensembl
Innerchr5:116079802..116080540hg18UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38739
hg19739
hg18739
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2373459, nssv2373456, nssv2373460, nssv2373451, nssv2373452, nssv2373454, nssv2373453, nssv2373455, nssv2373457, nssv2373458
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)nsv964927
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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