A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521838



Internal ID15102445
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 StatusM
Merged Variants
Supporting Variantsnssv694611
Samples
Known GenesCACNA1C, DCP1B
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521838
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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