A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv973125



Internal ID18608340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:118244063..118247990hg38UCSC Ensembl
Innerchr12:118681868..118685795hg19UCSC Ensembl
Innerchr12:117166251..117170178hg18UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg383928
hg193928
hg183928
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1945698, nssv1945700, nssv1945693, nssv1945699, nssv1945695, nssv1945702, nssv1945701, nssv1945696, nssv1945694, nssv1945697
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesTAOK3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv973125
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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