A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1416864



Internal ID16406412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:55669650..55828837hg38UCSC Ensembl
Innerchr11:55437126..55596313hg19UCSC Ensembl
Innerchr11:55193702..55352889hg18UCSC Ensembl
Innerchr11:55193702..55352889hg17UCSC Ensembl
Cytoband11q11
Allele length
AssemblyAllele length
hg38159188
hg19159188
hg18159188
hg17159188
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv818834
Supporting Variants
SamplesNA19239
Known GenesOR5D13, OR5D14, OR5D18, OR5L1, OR5L2
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)nssv1416864
Frequency
Sample Size112
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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