A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1417271



Internal ID16058260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:130382306..130426671hg38UCSC Ensembl
Innerchr12:130866851..130911216hg19UCSC Ensembl
Innerchr12:129432804..129477169hg18UCSC Ensembl
Innerchr12:129391731..129436096hg17UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3844366
hg1944366
hg1844366
hg1744366
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv818938
Supporting Variants
SamplesNA18593
Known GenesRIMBP2
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)nssv1417271
Frequency
Sample Size112
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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