A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976111



Internal ID18611318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:46416809..46435028hg38UCSC Ensembl
Innerchr13:46990944..47009163hg19UCSC Ensembl
Innerchr13:45888945..45907164hg18UCSC Ensembl
Cytoband13q14.12
Allele length
AssemblyAllele length
hg3818220
hg1918220
hg1818220
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1963354, nssv1963346, nssv1963348, nssv1963349, nssv1963351, nssv1963347, nssv1963355, nssv1963353, nssv1963352, nssv1963350
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)nsv976111
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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