A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961769



Internal ID18597015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:42461478..42463192hg38UCSC Ensembl
Innerchr2:42688618..42690332hg19UCSC Ensembl
Innerchr2:42542122..42543836hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg381715
hg191715
hg181715
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2168967, nssv2168975, nssv2168968, nssv2168970, nssv2168971, nssv2168974, nssv2168969, nssv2168972, nssv2168973, nssv2168976
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesKCNG3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961769
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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