A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv526182



Internal ID15106789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:2453375..2460292hg38UCSC Ensembl
Innerchr12:2562541..2569458hg19UCSC Ensembl
Innerchr12:2432802..2439719hg18UCSC Ensembl
Innerchr12:2432802..2439719hg17UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg386918
hg196918
hg186918
hg176918
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv702444
Samples
Known GenesCACNA1C
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv526182
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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