A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818947



Internal ID16061102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:20401130..20521581hg38UCSC Ensembl
Innerchr13:20975269..21095720hg19UCSC Ensembl
Innerchr13:19873269..19993720hg18UCSC Ensembl
Innerchr13:19873269..19993720hg17UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg38120452
hg19120452
hg18120452
hg17120452
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1417093
SamplesNA18529
Known GenesCRYL1, MIR4499
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)nsv818947
Frequency
Sample Size112
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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