A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818858



Internal ID16061013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:93165176..93199063hg38UCSC Ensembl
Innerchr11:92898342..92932229hg19UCSC Ensembl
Innerchr11:92537990..92571877hg18UCSC Ensembl
Innerchr11:92537990..92571877hg17UCSC Ensembl
Cytoband11q21
Allele length
AssemblyAllele length
hg3833888
hg1933888
hg1833888
hg1733888
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1416263
SamplesNA12056
Known GenesSLC36A4
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)nsv818858
Frequency
Sample Size112
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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