A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv523836



Internal ID15451129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:100187406..100187907hg38UCSC Ensembl
Innerchr3:99906250..99906751hg19UCSC Ensembl
Innerchr3:101388940..101389441hg18UCSC Ensembl
Innerchr3:101388940..101389441hg17UCSC Ensembl
Cytoband3q12.1
Allele length
AssemblyAllele length
hg38502
hg19502
hg18502
hg17502
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv699668
Samples
Known GenesTMEM30C
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv523836
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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