A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1416227



Internal ID16403486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:52993967..53004770hg38UCSC Ensembl
Innerchr3:53027983..53038786hg19UCSC Ensembl
Innerchr3:53003023..53013826hg18UCSC Ensembl
Innerchr3:53003023..53013826hg17UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg3810804
hg1910804
hg1810804
hg1710804
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv818140
Supporting Variants
SamplesNA06985
Known GenesSFMBT1
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)nssv1416227
Frequency
Sample Size112
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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