A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv14n64



Internal ID20146452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:67734155..67981346hg38UCSC Ensembl
chr11:67501626..67748817hg19UCSC Ensembl
chr11:67258202..67505393hg18UCSC Ensembl
chr11:67258202..67505393hg17UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg38247192
hg19247192
hg18247192
hg17247192
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv818847, nsv818846
SamplesNA18612, NA18609, NA18987
Known GenesFAM86C2P
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)dgv14n64
Frequency
Sample Size112
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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