A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818837



Internal ID16060992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:61481911..61498222hg38UCSC Ensembl
Innerchr11:61249383..61265694hg19UCSC Ensembl
Innerchr11:61005959..61022270hg18UCSC Ensembl
Innerchr11:61005959..61022270hg17UCSC Ensembl
Cytoband11q12.2
Allele length
AssemblyAllele length
hg3816312
hg1916312
hg1816312
hg1716312
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1417720
SamplesNA18999
Known GenesPPP1R32
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)nsv818837
Frequency
Sample Size112
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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