A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818200



Internal ID16060355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:66802959..66816506hg38UCSC Ensembl
Innerchr1:67268642..67282189hg19UCSC Ensembl
Innerchr1:67041230..67054777hg18UCSC Ensembl
Innerchr1:66980663..66994210hg17UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3813548
hg1913548
hg1813548
hg1713548
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1417530
SamplesNA18968
Known GenesWDR78
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)nsv818200
Frequency
Sample Size112
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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