A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv523219



Internal ID15450512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:133677332..133814593hg38UCSC Ensembl
Innerchr8:134689575..134826836hg19UCSC Ensembl
Innerchr8:134758757..134896018hg18UCSC Ensembl
Innerchr8:134758757..134896018hg17UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg38137262
hg19137262
hg18137262
hg17137262
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv698941
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv523219
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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