A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818150



Internal ID16406991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:75379524..75519068hg38UCSC Ensembl
Innerchr3:75428675..75568219hg19UCSC Ensembl
Innerchr3:75511365..75650909hg18UCSC Ensembl
Innerchr3:75511365..75650909hg17UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg38139545
hg19139545
hg18139545
hg17139545
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1416616
SamplesNA12043
Known GenesFAM86DP
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)nsv818150
Frequency
Sample Size112
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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