A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979867



Internal ID18615068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:113361893..113362506hg38UCSC Ensembl
Innerchr3:113080740..113081353hg19UCSC Ensembl
Innerchr3:114563430..114564043hg18UCSC Ensembl
Cytoband3q13.2
Allele length
AssemblyAllele length
hg38614
hg19614
hg18614
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2291770, nssv2291774, nssv2291773, nssv2291772, nssv2291771, nssv2291776, nssv2291777, nssv2291778, nssv2291775, nssv2291779
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesWDR52
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979867
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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