A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694611



Internal ID15084577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:1951414..2190514hg38UCSC Ensembl
Innerchr12:2060580..2299680hg19UCSC Ensembl
Innerchr12:1930841..2169941hg18UCSC Ensembl
Innerchr12:1930841..2169941hg17UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38239101
hg19239101
hg18239101
hg17239101
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv521838
Supporting Variants
Samples
Known GenesCACNA1C, DCP1B
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694611
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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