A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv523494



Internal ID15450787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:45065941..45162844hg38UCSC Ensembl
Innerchr2:45293080..45389983hg19UCSC Ensembl
Innerchr2:45146584..45243487hg18UCSC Ensembl
Innerchr2:45204731..45301634hg17UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3896904
hg1996904
hg1896904
hg1796904
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv699263
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv523494
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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