A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818848



Internal ID16407689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:69093190..69103533hg38UCSC Ensembl
Innerchr11:68860658..68871001hg19UCSC Ensembl
Innerchr11:68617234..68627577hg18UCSC Ensembl
Innerchr11:68617234..68627577hg17UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg3810344
hg1910344
hg1810344
hg1710344
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1417747
SamplesNA19003
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)nsv818848
Frequency
Sample Size112
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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