A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818861



Internal ID16407702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:102545128..102553159hg38UCSC Ensembl
Innerchr11:102415859..102423890hg19UCSC Ensembl
Innerchr11:101921069..101929100hg18UCSC Ensembl
Innerchr11:101921069..101929100hg17UCSC Ensembl
Cytoband11q22.2
Allele length
AssemblyAllele length
hg388032
hg198032
hg188032
hg178032
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1417412
SamplesNA18951
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)nsv818861
Frequency
Sample Size112
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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