A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv683091



Internal ID15419743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:22785113..22822398hg38UCSC Ensembl
Innerchr4:22786736..22824021hg19UCSC Ensembl
Innerchr4:22395834..22433119hg18UCSC Ensembl
Innerchr4:22463005..22500290hg17UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg3837286
hg1937286
hg1837286
hg1737286
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv520813
Supporting Variants
Samples
Known GenesGBA3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv683091
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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