A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv831472



Internal ID16455341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:136589582..136760350hg38UCSC Ensembl
Outerchr8:137601825..137772593hg19UCSC Ensembl
Outerchr8:137671007..137841775hg18UCSC Ensembl
Outerchr8:137671007..137841775hg17UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg38170769
hg19170769
hg18170769
hg17170769
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1447488
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)nsv831472
Frequency
Sample Size95
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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