A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520813



Internal ID15448106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:22782091..22822398hg38UCSC Ensembl
Innerchr4:22783714..22824021hg19UCSC Ensembl
Innerchr4:22392812..22433119hg18UCSC Ensembl
Innerchr4:22459983..22500290hg17UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg3840308
hg1940308
hg1840308
hg1740308
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv698823, nssv675706, nssv683091
Samples
Known GenesGBA3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520813
Frequency
Sample Size2026
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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