A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv699989



Internal ID15089955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:2328939..2332296hg38UCSC Ensembl
Innerchr12:2438105..2441462hg19UCSC Ensembl
Innerchr12:2308366..2311723hg18UCSC Ensembl
Innerchr12:2308366..2311723hg17UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg383358
hg193358
hg183358
hg173358
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv524111
Supporting Variants
Samples
Known GenesCACNA1C
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv699989
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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