A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818843



Internal ID16407684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:66160302..66167718hg38UCSC Ensembl
Innerchr11:65927773..65935189hg19UCSC Ensembl
Innerchr11:65684349..65691765hg18UCSC Ensembl
Innerchr11:65684349..65691765hg17UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg387417
hg197417
hg187417
hg177417
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1416663, nssv1416662
SamplesNA19120, NA19116
Known GenesPACS1
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)nsv818843
Frequency
Sample Size112
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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