A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv817943



Internal ID16060098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:22217462..22394160hg38UCSC Ensembl
Innerchr22:22571854..22748498hg19UCSC Ensembl
Innerchr22:20901854..21078498hg18UCSC Ensembl
Innerchr22:20896408..21073052hg17UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38176699
hg19176645
hg18176645
hg17176645
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1417081
SamplesNA06994
Known GenesBMS1P20, VPREB1
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)nsv817943
Frequency
Sample Size112
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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