A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818799



Internal ID16407640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:15908926..15925257hg38UCSC Ensembl
Innerchr11:15930472..15946803hg19UCSC Ensembl
Innerchr11:15887048..15903379hg18UCSC Ensembl
Innerchr11:15887048..15903379hg17UCSC Ensembl
Cytoband11p15.2
Allele length
AssemblyAllele length
hg3816332
hg1916332
hg1816332
hg1716332
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1417665
SamplesNA18994
Known Genes
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)nsv818799
Frequency
Sample Size112
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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