A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818828



Internal ID16060983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:55603545..55669650hg38UCSC Ensembl
Innerchr11:55371021..55437126hg19UCSC Ensembl
Innerchr11:55127597..55193702hg18UCSC Ensembl
Innerchr11:55127597..55193702hg17UCSC Ensembl
Cytoband11q11
Allele length
AssemblyAllele length
hg3866106
hg1966106
hg1866106
hg1766106
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10n64
Supporting Variantsnssv1417179, nssv1417615
SamplesNA18550, 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)nsv818828
Frequency
Sample Size112
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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