A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv523198



Internal ID15450491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:147493190..147557643hg38UCSC Ensembl
Innerchr3:147210977..147275430hg19UCSC Ensembl
Innerchr3:148693667..148758120hg18UCSC Ensembl
Innerchr3:148693675..148758128hg17UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg3864454
hg1964454
hg1864454
hg1764454
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv698916
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv523198
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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