A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979236



Internal ID18614439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:94847098..94852301hg38UCSC Ensembl
Innerchr2:95512843..95518046hg19UCSC Ensembl
Innerchr2:94876570..94881773hg18UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg385204
hg195204
hg185204
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2667551, nssv2667556, nssv2667557, nssv2667554, nssv2667550, nssv2667553, nssv2667555, nssv2667558, nssv2667552, nssv2667559
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesANKRD20A8P
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979236
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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