A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961996



Internal ID18597242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:111818768..111824394hg38UCSC Ensembl
Innerchr2:112576345..112581971hg19UCSC Ensembl
Innerchr2:112292816..112298442hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg385627
hg195627
hg185627
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2668267, nssv2668265, nssv2668266, nssv2668260, nssv2668262, nssv2668268, nssv2668263, nssv2668269, nssv2668264, nssv2668261
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesANAPC1
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961996
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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