A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818001



Internal ID16406842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:46278315..46288661hg38UCSC Ensembl
Innerchr22:46674212..46684558hg19UCSC Ensembl
Innerchr22:45052876..45063222hg18UCSC Ensembl
Innerchr22:44994731..45005077hg17UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3810347
hg1910347
hg1810347
hg1710347
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1417202
SamplesNA18558
Known GenesTTC38
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)nsv818001
Frequency
Sample Size112
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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