A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818344



Internal ID16060499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:33518122..33546327hg38UCSC Ensembl
Innerchr5:33518227..33546432hg19UCSC Ensembl
Innerchr5:33553984..33582189hg18UCSC Ensembl
Innerchr5:33553984..33582189hg17UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3828206
hg1928206
hg1828206
hg1728206
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1415758, nssv1415757
SamplesNA12875, NA12865
Known GenesADAMTS12
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)nsv818344
Frequency
Sample Size112
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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