A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1416988



Internal ID16405837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:59990186..59997451hg38UCSC Ensembl
Innerchr20:58565241..58572506hg19UCSC Ensembl
Innerchr20:57998636..58005901hg18UCSC Ensembl
Innerchr20:57998636..58005901hg17UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg387266
hg197266
hg187266
hg177266
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv817901
Supporting Variants
SamplesNA19137
Known GenesCDH26
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)nssv1416988
Frequency
Sample Size112
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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