A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976320



Internal ID18611526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:23195526..23230007hg38UCSC Ensembl
Innerchr14:23664735..23699216hg19UCSC Ensembl
Innerchr14:22734575..22769056hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3834482
hg1934482
hg1834482
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1980064, nssv1980065, nssv1980060, nssv1980062, nssv1980057, nssv1980059, nssv1980066, nssv1980061, nssv1980058, nssv1980063
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)nsv976320
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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