A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv830518



Internal ID9421369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:149940811..150117140hg38UCSC Ensembl
Outerchr5:149320374..149496703hg19UCSC Ensembl
Outerchr5:149300567..149476896hg18UCSC Ensembl
Outerchr5:149300567..149476896hg17UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38176330
hg19176330
hg18176330
hg17176330
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1445111
Samples
Known GenesCSF1R, HMGXB3, PDE6A, PDGFRB, SLC26A2, TIGD6
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)nsv830518
Frequency
Sample Size95
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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