A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516538



Internal ID15443831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:129664053..129785184hg38UCSC Ensembl
Innerchr3:129382896..129504027hg19UCSC Ensembl
Innerchr3:130865586..130986717hg18UCSC Ensembl
Innerchr3:130865594..130986725hg17UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38121132
hg19121132
hg18121132
hg17121132
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv686682, nssv668989, nssv663735, nssv692262, nssv674640
Samples
Known GenesTMCC1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516538
Frequency
Sample Size2026
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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