A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv831707



Internal ID16455576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:117934440..118118183hg38UCSC Ensembl
Outerchr9:120696718..120880461hg19UCSC Ensembl
Outerchr9:119736539..119920282hg18UCSC Ensembl
Outerchr9:117776272..117960015hg17UCSC Ensembl
Cytoband9q33.1
Allele length
AssemblyAllele length
hg38183744
hg19183744
hg18183744
hg17183744
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1447981, nssv1447979, nssv1447980, nssv1447978
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)nsv831707
Frequency
Sample Size95
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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