A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv817981



Internal ID16406822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25265758..25514700hg38UCSC Ensembl
Innerchr22:25661725..25910667hg19UCSC Ensembl
Innerchr22:23991725..24240667hg18UCSC Ensembl
Innerchr22:23986279..24235221hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38248943
hg19248943
hg18248943
hg17248943
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv45n64
Supporting Variantsnssv1415929, nssv1415930
SamplesNA11995, 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)nsv817981
Frequency
Sample Size112
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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