A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv10n64



Internal ID20146448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:55603545..55674892hg38UCSC Ensembl
chr11:55371021..55442368hg19UCSC Ensembl
chr11:55127597..55198944hg18UCSC Ensembl
chr11:55127597..55198944hg17UCSC Ensembl
Cytoband11q11
Allele length
AssemblyAllele length
hg3871348
hg1971348
hg1871348
hg1771348
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv818831, nsv818828
SamplesNA18550, NA18992, NA18978
Known GenesOR4C11, OR4C6, OR4P4, OR4S2
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)dgv10n64
Frequency
Sample Size112
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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