A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv817646



Internal ID16059801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:105149311..105188269hg38UCSC Ensembl
Innerchr14:105615648..105654606hg19UCSC Ensembl
Innerchr14:104686693..104725651hg18UCSC Ensembl
Innerchr14:104686693..104725651hg17UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg3838959
hg1938959
hg1838959
hg1738959
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1417935
SamplesNA18853
Known GenesJAG2, MIR6765, NUDT14
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)nsv817646
Frequency
Sample Size112
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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