A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv817854



Internal ID16060009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:49618821..49726387hg38UCSC Ensembl
Innerchr19:50122078..50229644hg19UCSC Ensembl
Innerchr19:54813890..54921456hg18UCSC Ensembl
Innerchr19:54813890..54921456hg17UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38107567
hg19107567
hg18107567
hg17107567
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1417699
SamplesNA18999
Known GenesADM5, BCL2L12, CPT1C, IRF3, MIR5088, PRMT1, PRR12, RRAS, SCAF1
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)nsv817854
Frequency
Sample Size112
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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