A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976130



Internal ID18611337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:68301379..68303318hg38UCSC Ensembl
Innerchr13:68875511..68877450hg19UCSC Ensembl
Innerchr13:67773512..67775451hg18UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg381940
hg191940
hg181940
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1967675, nssv1967672, nssv1967674, nssv1967673, nssv1967679, nssv1967681, nssv1967676, nssv1967680, nssv1967677, nssv1967678
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)nsv976130
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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