A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv817724



Internal ID16059879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:18937444..19049626hg38UCSC Ensembl
Innerchr16:18948766..19060948hg19UCSC Ensembl
Innerchr16:18856267..18968449hg18UCSC Ensembl
Innerchr16:18856267..18968449hg17UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38112183
hg19112183
hg18112183
hg17112183
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1417673
SamplesNA18994
Known GenesTMC7
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)nsv817724
Frequency
Sample Size112
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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