A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518814



Internal ID15446107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:143947983..143984908hg38UCSC Ensembl
Innerchr3:143666825..143703750hg19UCSC Ensembl
Innerchr3:145149515..145186440hg18UCSC Ensembl
Innerchr3:145149523..145186448hg17UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg3836926
hg1936926
hg1836926
hg1736926
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696267
Samples
Known GenesC3orf58
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518814
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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