A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv37n64



Internal ID20146475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:22100170..22362208hg38UCSC Ensembl
chr22:22454580..22716568hg19UCSC Ensembl
chr22:20784580..21046568hg18UCSC Ensembl
chr22:20779134..21041122hg17UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38262039
hg19261989
hg18261989
hg17261989
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv817940, nsv817941, nsv817942
SamplesNA18972, NA07348, NA10851
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)dgv37n64
Frequency
Sample Size112
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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