A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv817712



Internal ID16059867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:774098..810673hg38UCSC Ensembl
Innerchr16:824098..860673hg19UCSC Ensembl
Innerchr16:764099..800674hg18UCSC Ensembl
Innerchr16:764099..800674hg17UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3836576
hg1936576
hg1836576
hg1736576
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1417304
SamplesNA18608
Known GenesCHTF18, GNG13, PRR25, RPUSD1
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)nsv817712
Frequency
Sample Size112
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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