A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv817985



Internal ID16406826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25268441..25528477hg38UCSC Ensembl
Innerchr22:25664408..25924444hg19UCSC Ensembl
Innerchr22:23994408..24254444hg18UCSC Ensembl
Innerchr22:23988962..24248998hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38260037
hg19260037
hg18260037
hg17260037
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv45n64
Supporting Variantsnssv1416394
SamplesNA19141
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)nsv817985
Frequency
Sample Size112
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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