A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1415908



Internal ID16057330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:55592737..55679951hg38UCSC Ensembl
Innerchr11:55360213..55447427hg19UCSC Ensembl
Innerchr11:55116789..55204003hg18UCSC Ensembl
Innerchr11:55116789..55204003hg17UCSC Ensembl
Cytoband11q11
Allele length
AssemblyAllele length
hg3887215
hg1987215
hg1887215
hg1787215
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv818824
Supporting Variants
SamplesNA11994
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)nssv1415908
Frequency
Sample Size112
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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