A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818614



Internal ID16060769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:18996430..19003973hg38UCSC Ensembl
Innerchr8:18853940..18861483hg19UCSC Ensembl
Innerchr8:18898220..18905763hg18UCSC Ensembl
Innerchr8:18898220..18905763hg17UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg387544
hg197544
hg187544
hg177544
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1417727, nssv1417738
SamplesNA10863, NA12234
Known GenesPSD3
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)nsv818614
Frequency
Sample Size112
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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