A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964398



Internal ID18599636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:43225949..43231495hg38UCSC Ensembl
Innerchr20:41854589..41860135hg19UCSC Ensembl
Innerchr20:41288003..41293549hg18UCSC Ensembl
Cytoband20q13.11
Allele length
AssemblyAllele length
hg385547
hg195547
hg185547
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2237257, nssv2237262, nssv2237263, nssv2237258, nssv2237259, nssv2237260, nssv2237265, nssv2237264, nssv2237256, nssv2237261
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)nsv964398
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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