A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818121



Internal ID16060276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:272855..283727hg38UCSC Ensembl
Innerchr3:314538..325410hg19UCSC Ensembl
Innerchr3:289538..300410hg18UCSC Ensembl
Innerchr3:289538..300410hg17UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg3810873
hg1910873
hg1810873
hg1710873
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1416428, nssv1416429
SamplesNA18517, NA18515
Known GenesCHL1
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)nsv818121
Frequency
Sample Size112
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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