A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv817737



Internal ID16406578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:72054432..72074194hg38UCSC Ensembl
Innerchr16:72088331..72108093hg19UCSC Ensembl
Innerchr16:70645832..70665594hg18UCSC Ensembl
Innerchr16:70645832..70665594hg17UCSC Ensembl
Cytoband16q22.2
Allele length
AssemblyAllele length
hg3819763
hg1919763
hg1819763
hg1719763
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1417511
SamplesNA18968
Known GenesHP, HPR
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)nsv817737
Frequency
Sample Size112
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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