A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv28n64



Internal ID20146466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:15669207..15719658hg38UCSC Ensembl
chr19:15780017..15830468hg19UCSC Ensembl
chr19:15641017..15691468hg18UCSC Ensembl
chr19:15641017..15691468hg17UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg3850452
hg1950452
hg1850452
hg1750452
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv817816, nsv817818
SamplesNA19171, NA19137, NA18515, NA18516, NA19173, NA18854, NA19116, NA18852, NA19139
Known GenesCYP4F12
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)dgv28n64
Frequency
Sample Size112
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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