A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv977246



Internal ID18612452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:54439451..54445784hg38UCSC Ensembl
Innerchr13:55013586..55019919hg19UCSC Ensembl
Innerchr13:53911587..53917920hg18UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg386334
hg196334
hg186334
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1965560, nssv1965288, nssv1965290, nssv1965559, nssv1965287, nssv1965289, nssv1965556, nssv1965558, nssv1965555, nssv1965557
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)nsv977246
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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