A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv830874



Internal ID9421725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:170538725..170729166hg38UCSC Ensembl
Outerchr6:170847813..171038254hg19UCSC Ensembl
Outerchr6:170689738..170880179hg18UCSC Ensembl
Outerchr6:170765445..170955886hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38190442
hg19190442
hg18190442
hg17190442
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1445829
Samples
Known GenesPDCD2, PSMB1, TBP
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)nsv830874
Frequency
Sample Size95
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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