A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1417426



Internal ID16405346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:100563147..100570518hg38UCSC Ensembl
Innerchr5:99898851..99906222hg19UCSC Ensembl
Innerchr5:99926750..99934121hg18UCSC Ensembl
Innerchr5:99926750..99934121hg17UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg387372
hg197372
hg187372
hg177372
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv818363
Supporting Variants
SamplesNA18952
Known GenesFAM174A
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)nssv1417426
Frequency
Sample Size112
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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