A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818927



Internal ID16061082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:79795564..79832207hg38UCSC Ensembl
Innerchr12:80189344..80225987hg19UCSC Ensembl
Innerchr12:78713475..78750118hg18UCSC Ensembl
Innerchr12:78691812..78728455hg17UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg3836644
hg1936644
hg1836644
hg1736644
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1416388, nssv1416387
SamplesNA18855, NA18857
Known GenesPPP1R12A
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)nsv818927
Frequency
Sample Size112
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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