A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv817638



Internal ID16406479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:70022963..70034256hg38UCSC Ensembl
Innerchr14:70489680..70500973hg19UCSC Ensembl
Innerchr14:69559433..69570726hg18UCSC Ensembl
Innerchr14:69559433..69570726hg17UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg3811294
hg1911294
hg1811294
hg1711294
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1415699
SamplesNA12248
Known GenesSMOC1
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)nsv817638
Frequency
Sample Size112
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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