A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv686612



Internal ID15076578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:2136470..2139695hg38UCSC Ensembl
Innerchr12:2245636..2248861hg19UCSC Ensembl
Innerchr12:2115897..2119122hg18UCSC Ensembl
Innerchr12:2115897..2119122hg17UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg383226
hg193226
hg183226
hg173226
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516496
Supporting Variants
Samples
Known GenesCACNA1C
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv686612
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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