A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv653949



Internal ID15043915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:2136470..2158977hg38UCSC Ensembl
Innerchr12:2245636..2268143hg19UCSC Ensembl
Innerchr12:2115897..2138404hg18UCSC Ensembl
Innerchr12:2115897..2138404hg17UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3822508
hg1922508
hg1822508
hg1722508
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)nssv653949
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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