A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518654



Internal ID15445947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:147029715..147084224hg38UCSC Ensembl
Innerchr2:147787283..147841792hg19UCSC Ensembl
Innerchr2:147503753..147558262hg18UCSC Ensembl
Innerchr2:147621015..147675524hg17UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg3854510
hg1954510
hg1854510
hg1754510
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv694258
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518654
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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