A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518141



Internal ID15445434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:131566642..131614376hg38UCSC Ensembl
Innerchr9:134442029..134489763hg19UCSC Ensembl
Innerchr9:133431850..133479584hg18UCSC Ensembl
Innerchr9:131471583..131519317hg17UCSC Ensembl
Cytoband9q34.13
Allele length
AssemblyAllele length
hg3847735
hg1947735
hg1847735
hg1747735
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695562
Samples
Known GenesRAPGEF1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518141
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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