A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv817999



Internal ID16060154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:44698163..44737460hg38UCSC Ensembl
Innerchr22:45094043..45133340hg19UCSC Ensembl
Innerchr22:43472707..43512004hg18UCSC Ensembl
Innerchr22:43414580..43453877hg17UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3839298
hg1939298
hg1839298
hg1739298
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1415724
SamplesNA12248
Known GenesPRR5, PRR5-ARHGAP8
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)nsv817999
Frequency
Sample Size112
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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