A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961018



Internal ID18596265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:23871671..23875598hg38UCSC Ensembl
Innerchr2:24094541..24098468hg19UCSC Ensembl
Innerchr2:23948045..23951972hg18UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg383928
hg193928
hg183928
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2166455, nssv2166450, nssv2166449, nssv2166452, nssv2166453, nssv2166456, nssv2166451, nssv2166454, nssv2166447, nssv2166448
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesATAD2B
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961018
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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