A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818879



Internal ID16061034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:2136470..2140902hg38UCSC Ensembl
Innerchr12:2245636..2250068hg19UCSC Ensembl
Innerchr12:2115897..2120329hg18UCSC Ensembl
Innerchr12:2115897..2120329hg17UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg384433
hg194433
hg184433
hg174433
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1416266, nssv1416265, nssv1418098, nssv1415589, nssv1415590
SamplesNA11881, NA12057, NA10851, NA10830, NA12236
Known GenesCACNA1C
MethodSNP array
AnalysisAn integrated HMM algorithm was developed and we constructed accurate models for log R Ratio and B Allele Frequency. We developed more realistic models for state transition between different copy number states. PennCNV incorporates the population allele frequency for each SNP and the distance between adjacent SNPs. We incorporated a Bayesian approach into PennCNV to use family information for a posteriori CNV validation and CNV boundary mapping.
PlatformGPL6433
Comments
ReferenceWang_et_al_2007
Pubmed ID17921354
Accession Number(s)nsv818879
Frequency
Sample Size112
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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