A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv44n64



Internal ID22780953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:25244661..25514700hg38UCSC Ensembl
chr22:25640628..25910667hg19UCSC Ensembl
chr22:23970628..24240667hg18UCSC Ensembl
chr22:23965182..24235221hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38270040
hg19270040
hg18270040
hg17270040
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv817979, nsv817982, nsv817980
SamplesNA18558, NA06985, NA18542, NA06991
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)dgv44n64
Frequency
Sample Size112
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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