A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005783



Internal ID19095000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:33910901..34115446hg38UCSC Ensembl
Innerchr2:34135968..34340513hg19UCSC Ensembl
Innerchr2:33989472..34194017hg18UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg38204546
hg19204546
hg18204546
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3579189
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005783
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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