A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv54n68



Internal ID19006575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:49848512..50008788hg38UCSC Ensembl
chr19:50351769..50512045hg19UCSC Ensembl
chr19:55043581..55203857hg18UCSC Ensembl
chr19:55043581..55203857hg17UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38160277
hg19160277
hg18160277
hg17160277
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv833871, nsv833868
Samples
Known GenesAKT1S1, ATF5, IL4I1, MIR4749, MIR4750, MIR4751, NUP62, PNKP, PTOV1, PTOV1-AS1, SIGLEC11, SIGLEC16, TBC1D17, VRK3
MethodBAC aCGH
AnalysisExperimental SDs (SDautosome) were calculated for each experiment on the basis of the log2 ratios of the 24,392 reliable clones minus the clones removed because of low signal-to-noise ratio (SNR) or high SD of replicate clone measures (SDclone). Thresholds for determining CNV clones were set at a multiple of the SDautosome value. For each experiment, clones were annotated as uninformative if they were filtered via SNR or SDclone, as a CNV loss if the log2 ratio was less than the negative threshold, as unchanged if the log2 ratio was between the negative and positive thresholds, and as a CNV gain if the log2 ratio was above the positive threshold.
PlatformGPL2616
Comments
ReferenceWong_et_al_2007
Pubmed ID17160897
Accession Number(s)dgv54n68
Frequency
Sample Size95
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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