A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv817940



Internal ID16060095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:22100170..22344200hg38UCSC Ensembl
Innerchr22:22454580..22698552hg19UCSC Ensembl
Innerchr22:20784580..21028552hg18UCSC Ensembl
Innerchr22:20779134..21023106hg17UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38244031
hg19243973
hg18243973
hg17243973
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv37n64
Supporting Variantsnssv1418034
SamplesNA07348
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)nsv817940
Frequency
Sample Size112
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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