A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv962591



Internal ID18597834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:51087650..51089392hg38UCSC Ensembl
Innerchr20:49704187..49705929hg19UCSC Ensembl
Innerchr20:49137594..49139336hg18UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg381743
hg191743
hg181743
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2239111, nssv2239112, nssv2239116, nssv2239109, nssv2239113, nssv2239114, nssv2239117, nssv2239110, nssv2239118, nssv2239115
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)nsv962591
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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