A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv965196



Internal ID18253744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:111569595..111571067hg38UCSC Ensembl
Innerchr3:111288442..111289914hg19UCSC Ensembl
Innerchr3:112771132..112772604hg18UCSC Ensembl
Cytoband3q13.13
Allele length
AssemblyAllele length
hg381473
hg191473
hg181473
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2288294, nssv2288292, nssv2288290, nssv2288296, nssv2288293, nssv2288299, nssv2288291, nssv2288297, nssv2288295, nssv2288298
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesCD96
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv965196
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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