A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv470337



Internal ID15038631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:2138013..2146161hg38UCSC Ensembl
Innerchr12:2247179..2255327hg19UCSC Ensembl
Innerchr12:2117440..2125588hg18UCSC Ensembl
Innerchr12:2117440..2125588hg16UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg388149
hg198149
hg188149
hg168149
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv438187
Supporting Variants
SamplesNA12872
Known GenesCACNA1C
MethodSNP array
AnalysisNull genotypes - for each genotype assay and population sample we defined the null genotype pattern of that assay as the binary vector (length 90) of null genotype calls across the 90 individuals.
PlatformNot reported
Comments
ReferenceMcCarroll_et_al_2006
Pubmed ID16468122
Accession Number(s)nssv470337
Frequency
Sample Size269
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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