A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv980687



Internal ID18615887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:77146655..77147468hg38UCSC Ensembl
Innerchr5:76442480..76443293hg19UCSC Ensembl
Innerchr5:76478236..76479049hg18UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg38814
hg19814
hg18814
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2365779, nssv2365781, nssv2365785, nssv2365787, nssv2365788, nssv2365782, nssv2365783, nssv2365786, nssv2365780, nssv2365784
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesZBED3-AS1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv980687
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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