A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv817937



Internal ID16060092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:22033934..22834810hg38UCSC Ensembl
Innerchr22:22388332..23176986hg19UCSC Ensembl
Innerchr22:20718332..21506986hg18UCSC Ensembl
Innerchr22:20712886..21501540hg17UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38800877
hg19788655
hg18788655
hg17788655
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1416211
SamplesNA12878
Known GenesBMS1P20, GGTLC2, LOC648691, MIR650, POM121L1P, PRAME, VPREB1, ZNF280A, ZNF280B
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)nsv817937
Frequency
Sample Size112
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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