A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1417260



Internal ID16058250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:7012444..7019055hg38UCSC Ensembl
Innerchr16:7062445..7069056hg19UCSC Ensembl
Innerchr16:7002446..7009057hg18UCSC Ensembl
Innerchr16:7002446..7009057hg17UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg386612
hg196612
hg186612
hg176612
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv817719
Supporting Variants
SamplesNA18593
Known GenesRBFOX1
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)nssv1417260
Frequency
Sample Size112
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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