A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv974083



Internal ID18609296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:40812362..40921073hg38UCSC Ensembl
Innerchr13:41386498..41495209hg19UCSC Ensembl
Innerchr13:40284498..40393209hg18UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38108712
hg19108712
hg18108712
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1961229, nssv1961228, nssv1961230, nssv1961231, nssv1961227, nssv1961233, nssv1961234, nssv1961232, nssv1961236, nssv1961235
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSLC25A15, SUGT1P3, TPTE2P5
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv974083
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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