A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv45n64



Internal ID22780954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:25265758..25528477hg38UCSC Ensembl
chr22:25661725..25924444hg19UCSC Ensembl
chr22:23991725..24254444hg18UCSC Ensembl
chr22:23986279..24248998hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38262720
hg19262720
hg18262720
hg17262720
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv817985, nsv817981
SamplesNA19141, NA11995, NA10861
Known GenesCRYBB2P1, IGLL3P, LRP5L, MIR6817
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)dgv45n64
Frequency
Sample Size112
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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