A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1417025



Internal ID16056902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:141040406..141056478hg38UCSC Ensembl
Innerchr5:140419991..140436063hg19UCSC Ensembl
Innerchr5:140400175..140416247hg18UCSC Ensembl
Innerchr5:140400175..140416247hg17UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3816073
hg1916073
hg1816073
hg1716073
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv818387
Supporting Variants
SamplesNA07000
Known GenesLOC101926905, PCDHB1
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)nssv1417025
Frequency
Sample Size112
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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