A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976357



Internal ID18611563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:77682363..77684014hg38UCSC Ensembl
Innerchr14:78148706..78150357hg19UCSC Ensembl
Innerchr14:77218459..77220110hg18UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg381652
hg191652
hg181652
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1992544, nssv1992542, nssv1992538, nssv1992547, nssv1992541, nssv1992546, nssv1992540, nssv1992543, nssv1992539, nssv1992545
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesALKBH1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv976357
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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