A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9n64



Internal ID20146447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:55603545..55650706hg38UCSC Ensembl
chr11:55371021..55418182hg19UCSC Ensembl
chr11:55127597..55174758hg18UCSC Ensembl
chr11:55127597..55174758hg17UCSC Ensembl
Cytoband11q11
Allele length
AssemblyAllele length
hg3847162
hg1947162
hg1847162
hg1747162
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv818826, nsv818825
SamplesNA12750, NA12264, NA18529, NA10863, NA12740, NA12234, NA12751, NA19139, NA19138
Known GenesOR4C11, OR4P4
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)dgv9n64
Frequency
Sample Size112
Observed Gain4
Observed Loss5
Observed Complex0
Frequencyn/a


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