A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818195



Internal ID16407036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:183904203..183915786hg38UCSC Ensembl
Innerchr3:183621991..183633574hg19UCSC Ensembl
Innerchr3:185104685..185116268hg18UCSC Ensembl
Innerchr3:185104693..185116276hg17UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg3811584
hg1911584
hg1811584
hg1711584
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1417197
SamplesNA18558
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)nsv818195
Frequency
Sample Size112
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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