A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818827



Internal ID16060982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:55603545..55655110hg38UCSC Ensembl
Innerchr11:55371021..55422586hg19UCSC Ensembl
Innerchr11:55127597..55179162hg18UCSC Ensembl
Innerchr11:55127597..55179162hg17UCSC Ensembl
Cytoband11q11
Allele length
AssemblyAllele length
hg3851566
hg1951566
hg1851566
hg1751566
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1416181, nssv1418096, nssv1418095
SamplesNA10859, NA11882, NA12892
Known GenesOR4C11, 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)nsv818827
Frequency
Sample Size112
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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