A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818846



Internal ID16061001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:67734155..67947557hg38UCSC Ensembl
Innerchr11:67501626..67715028hg19UCSC Ensembl
Innerchr11:67258202..67471604hg18UCSC Ensembl
Innerchr11:67258202..67471604hg17UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg38213403
hg19213403
hg18213403
hg17213403
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv14n64
Supporting Variantsnssv1417341, nssv1417362
SamplesNA18609, NA18612
Known GenesFAM86C2P
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)nsv818846
Frequency
Sample Size112
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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