A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv817746



Internal ID16059901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:84419746..84420147hg38UCSC Ensembl
Innerchr16:84453352..84453753hg19UCSC Ensembl
Innerchr16:83010853..83011254hg18UCSC Ensembl
Innerchr16:83010853..83011254hg17UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg38402
hg19402
hg18402
hg17402
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1418029
SamplesNA07357
Known GenesATP2C2
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)nsv817746
Frequency
Sample Size112
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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