A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818664



Internal ID16407505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:143933019..143944186hg38UCSC Ensembl
Innerchr8:145007187..145018354hg19UCSC Ensembl
Innerchr8:145079175..145090342hg18UCSC Ensembl
Innerchr8:145079175..145090342hg17UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3811168
hg1911168
hg1811168
hg1711168
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1417900
SamplesNA18853
Known GenesPLEC
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)nsv818664
Frequency
Sample Size112
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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