A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv817990



Internal ID16406831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:35542334..35575834hg38UCSC Ensembl
Innerchr22:35938381..35971881hg19UCSC Ensembl
Innerchr22:34268327..34301827hg18UCSC Ensembl
Innerchr22:34262881..34296381hg17UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3833501
hg1933501
hg1833501
hg1733501
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1415719
SamplesNA12248
Known GenesRASD2
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)nsv817990
Frequency
Sample Size112
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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