A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv967063



Internal ID18602292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:129998869..130005557hg38UCSC Ensembl
Innerchr3:129717712..129724400hg19UCSC Ensembl
Innerchr3:131200402..131207090hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg386689
hg196689
hg186689
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2692385, nssv2692393, nssv2692387, nssv2692388, nssv2692390, nssv2692391, nssv2692394, nssv2692389, nssv2692392, nssv2692386
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv967063
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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