A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv963716



Internal ID18598956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:126553858..126565485hg38UCSC Ensembl
Innerchr2:127311435..127323062hg19UCSC Ensembl
Innerchr2:127027905..127039532hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3811628
hg1911628
hg1811628
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2203013, nssv2203016, nssv2203017, nssv2203012, nssv2203008, nssv2203010, nssv2203014, nssv2203011, nssv2203015, nssv2203009
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)nsv963716
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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