A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1417635



Internal ID16058864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:55615681..55674892hg38UCSC Ensembl
Innerchr11:55383157..55442368hg19UCSC Ensembl
Innerchr11:55139733..55198944hg18UCSC Ensembl
Innerchr11:55139733..55198944hg17UCSC Ensembl
Cytoband11q11
Allele length
AssemblyAllele length
hg3859212
hg1959212
hg1859212
hg1759212
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv818831
Supporting Variants
SamplesNA18992
Known GenesOR4C6, 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)nssv1417635
Frequency
Sample Size112
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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