A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961019



Internal ID18596266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:23944213..23944713hg38UCSC Ensembl
Innerchr2:24167083..24167583hg19UCSC Ensembl
Innerchr2:24020587..24021087hg18UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg38501
hg19501
hg18501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2166544, nssv2166547, nssv2166546, nssv2166552, nssv2166548, nssv2166549, nssv2166553, nssv2166551, nssv2166545, nssv2166550
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesUBXN2A
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961019
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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