A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv786517



Internal ID15733787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:2126462..2158977hg38UCSC Ensembl
Innerchr12:2235628..2268143hg19UCSC Ensembl
Innerchr12:2105889..2138404hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3832516
hg1932516
hg1832516
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv557040
Supporting Variants
Samples
Known GenesCACNA1C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv786517
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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