A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv591301



Internal ID16032024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:112533685..112613782hg38UCSC Ensembl
Innerchr3:112252532..112332629hg19UCSC Ensembl
Innerchr3:113735222..113815319hg18UCSC Ensembl
Cytoband3q13.2
Allele length
AssemblyAllele length
hg3880098
hg1980098
hg1880098
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv971533
Samples
Known GenesATG3, CCDC80, SLC35A5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv591301
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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