A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv817675



Internal ID16406516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:24821213..24833640hg38UCSC Ensembl
Innerchr15:25066360..25078787hg19UCSC Ensembl
Innerchr15:22617453..22629880hg18UCSC Ensembl
Innerchr15:22617453..22629880hg17UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg3812428
hg1912428
hg1812428
hg1712428
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1416597, nssv1416598
SamplesNA19172, NA19173
Known GenesSNRPN
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)nsv817675
Frequency
Sample Size112
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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