A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv817982



Internal ID16406823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25268441..25513237hg38UCSC Ensembl
Innerchr22:25664408..25909204hg19UCSC Ensembl
Innerchr22:23994408..24239204hg18UCSC Ensembl
Innerchr22:23988962..24233758hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38244797
hg19244797
hg18244797
hg17244797
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv44n64
Supporting Variantsnssv1417213
SamplesNA18558
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)nsv817982
Frequency
Sample Size112
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer