A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518470



Internal ID15445763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:230153453..230162446hg38UCSC Ensembl
Innerchr2:231018169..231027162hg19UCSC Ensembl
Innerchr2:230726413..230735406hg18UCSC Ensembl
Innerchr2:230843674..230852667hg17UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg388994
hg198994
hg188994
hg178994
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695906
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518470
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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