A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv817742



Internal ID16406583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:78028262..78037610hg38UCSC Ensembl
Innerchr16:78062159..78071507hg19UCSC Ensembl
Innerchr16:76619660..76629008hg18UCSC Ensembl
Innerchr16:76619660..76629008hg17UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg389349
hg199349
hg189349
hg179349
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1418515, nssv1418516
SamplesNA19192, NA19194
Known GenesCLEC3A
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)nsv817742
Frequency
Sample Size112
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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