A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818005



Internal ID16060160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:48499962..48501198hg38UCSC Ensembl
Innerchr22:48895774..48897010hg19UCSC Ensembl
Innerchr22:47274438..47275674hg18UCSC Ensembl
Innerchr22:47216293..47217529hg17UCSC Ensembl
Cytoband22q13.32
Allele length
AssemblyAllele length
hg381237
hg191237
hg181237
hg171237
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1416522
SamplesNA18516
Known GenesFAM19A5
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)nsv818005
Frequency
Sample Size112
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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