A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv786387



Internal ID15733657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:2052504..2054835hg38UCSC Ensembl
Innerchr12:2161670..2164001hg19UCSC Ensembl
Innerchr12:2031931..2034262hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg382332
hg192332
hg182332
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv557002
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)nssv786387
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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