A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976118



Internal ID18611325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:52546816..52597536hg38UCSC Ensembl
Innerchr13:53120951..53171671hg19UCSC Ensembl
Innerchr13:52018952..52069672hg18UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg3850721
hg1950721
hg1850721
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1962984, nssv1962977, nssv1962979, nssv1962986, nssv1962983, nssv1962981, nssv1962978, nssv1962980, nssv1962985, nssv1962982
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesTPTE2P3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv976118
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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