A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv965181



Internal ID18600415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:79956067..79958229hg38UCSC Ensembl
Innerchr3:80005217..80007379hg19UCSC Ensembl
Innerchr3:80087907..80090069hg18UCSC Ensembl
Cytoband3p12.2
Allele length
AssemblyAllele length
hg382163
hg192163
hg182163
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2286142, nssv2286147, nssv2286139, nssv2286143, nssv2286141, nssv2286146, nssv2286145, nssv2286144, nssv2286140, nssv2286148
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)nsv965181
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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