A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979447



Internal ID18614650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:58947602..58950778hg38UCSC Ensembl
Innerchr20:57522657..57525833hg19UCSC Ensembl
Innerchr20:56956052..56959228hg18UCSC Ensembl
Cytoband20q13.32
Allele length
AssemblyAllele length
hg383177
hg193177
hg183177
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2242320, nssv2242324, nssv2242327, nssv2242328, nssv2242322, nssv2242321, nssv2242323, nssv2242325, nssv2242326, nssv2242329
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)nsv979447
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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