A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1417576



Internal ID16058795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:22100170..22355161hg38UCSC Ensembl
Innerchr22:22454580..22709509hg19UCSC Ensembl
Innerchr22:20784580..21039509hg18UCSC Ensembl
Innerchr22:20779134..21034063hg17UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38254992
hg19254930
hg18254930
hg17254930
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv817941
Supporting Variants
SamplesNA18972
Known GenesBMS1P20, VPREB1
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)nssv1417576
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