A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1418512



Internal ID16059605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:75524585..75538114hg38UCSC Ensembl
Innerchr16:75558483..75572012hg19UCSC Ensembl
Innerchr16:74115984..74129513hg18UCSC Ensembl
Innerchr16:74115984..74129513hg17UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg3813530
hg1913530
hg1813530
hg1713530
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv817738
Supporting Variants
SamplesNA19192
Known GenesCHST5
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)nssv1418512
Frequency
Sample Size112
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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