A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964941



Internal ID18600176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:135739810..135740785hg38UCSC Ensembl
Innerchr5:135075499..135076474hg19UCSC Ensembl
Innerchr5:135103398..135104373hg18UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38976
hg19976
hg18976
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2377453, nssv2377461, nssv2377458, nssv2377459, nssv2377455, nssv2377460, nssv2377457, nssv2377452, nssv2377454, nssv2377456
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)nsv964941
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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