A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818003



Internal ID16406844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:48353851..48380420hg38UCSC Ensembl
Innerchr22:48749663..48776232hg19UCSC Ensembl
Innerchr22:47128327..47154896hg18UCSC Ensembl
Innerchr22:47070182..47096751hg17UCSC Ensembl
Cytoband22q13.32
Allele length
AssemblyAllele length
hg3826570
hg1926570
hg1826570
hg1726570
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1415726
SamplesNA12248
Known Genes
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)nsv818003
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