A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv831205



Internal ID16108388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:90472..248712hg38UCSC Ensembl
Outerchr8:40472..198712hg19UCSC Ensembl
Outerchr8:30472..188712hg18UCSC Ensembl
Outerchr8:30472..188712hg17UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg38158241
hg19158241
hg18158241
hg17158241
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1446820, nssv1446822, nssv1446823, nssv1446821, nssv1446819
Samples
Known GenesOR4F21, RPL23AP53, ZNF596
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)nsv831205
Frequency
Sample Size95
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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