A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979020



Internal ID18614223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:71732772..71733701hg38UCSC Ensembl
Innerchr2:71959902..71960831hg19UCSC Ensembl
Innerchr2:71813410..71814339hg18UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg38930
hg19930
hg18930
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2178077, nssv2178070, nssv2178076, nssv2178071, nssv2178073, nssv2178074, nssv2178072, nssv2178078, nssv2178075, nssv2178079
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979020
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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