A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976325



Internal ID18611531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:31143505..31144100hg38UCSC Ensembl
Innerchr14:31612711..31613306hg19UCSC Ensembl
Innerchr14:30682462..30683057hg18UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg38596
hg19596
hg18596
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1980702, nssv1980704, nssv1980707, nssv1980705, nssv1980708, nssv1980709, nssv1980710, nssv1980706, nssv1980711, nssv1980703
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesHECTD1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv976325
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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