A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv692262



Internal ID15428914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:129713504..129785184hg38UCSC Ensembl
Innerchr3:129432347..129504027hg19UCSC Ensembl
Innerchr3:130915037..130986717hg18UCSC Ensembl
Innerchr3:130915045..130986725hg17UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3871681
hg1971681
hg1871681
hg1771681
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516538
Supporting Variants
Samples
Known GenesTMCC1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv692262
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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