A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv817744



Internal ID16406585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:80955962..80994080hg38UCSC Ensembl
Innerchr16:80989859..81027685hg19UCSC Ensembl
Innerchr16:79547360..79585186hg18UCSC Ensembl
Innerchr16:79547360..79585186hg17UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg3838119
hg1937827
hg1837827
hg1737827
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1418181
SamplesNA06985
Known GenesCMC2
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)nsv817744
Frequency
Sample Size112
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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