A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv817989



Internal ID16060144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:35066656..35154238hg38UCSC Ensembl
Innerchr22:35462649..35550231hg19UCSC Ensembl
Innerchr22:33792649..33880231hg18UCSC Ensembl
Innerchr22:33787203..33874785hg17UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3887583
hg1987583
hg1887583
hg1787583
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1417359
SamplesNA18612
Known GenesISX
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)nsv817989
Frequency
Sample Size112
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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