A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521349



Internal ID15448642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:5072302..5076919hg38UCSC Ensembl
Innerchr4:5074029..5078646hg19UCSC Ensembl
Innerchr4:5124930..5129547hg18UCSC Ensembl
Innerchr4:5192101..5196718hg17UCSC Ensembl
Cytoband4p16.2
Allele length
AssemblyAllele length
hg384618
hg194618
hg184618
hg174618
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv697959
Samples
Known GenesSTK32B
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521349
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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