A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518727



Internal ID15099334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:111333002..111542854hg38UCSC Ensembl
Innerchr5:110668700..110878552hg19UCSC Ensembl
Innerchr5:110696599..110906451hg18UCSC Ensembl
Innerchr5:110696599..110906451hg17UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg38209853
hg19209853
hg18209853
hg17209853
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696177
Samples
Known GenesCAMK4, STARD4, STARD4-AS1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518727
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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