A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv91n68



Internal ID22782331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:48167617..48377649hg38UCSC Ensembl
chr8:49080177..49290209hg19UCSC Ensembl
chr8:49242730..49452762hg18UCSC Ensembl
chr8:49242730..49452762hg17UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg38210033
hg19210033
hg18210033
hg17210033
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv831310, nsv831311
Samples
Known Genes
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)dgv91n68
Frequency
Sample Size95
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


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