A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv549259



Internal ID15212769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18076012..18213970hg38UCSC Ensembl
Innerchr22:18558778..18696737hg19UCSC Ensembl
Innerchr22:16938778..17076737hg18UCSC Ensembl
Innerchr22:16933332..17071291hg16UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38137959
hg19137960
hg18137960
hg16137960
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv471594
Supporting Variants
SamplesNA10971
Known GenesPEX26, TUBA8, USP18
MethodBAC aCGH
AnalysisArray image analysis and normalization were performed using UCSF Spot and Sproc software (Jain et al. 2002). BACs for which only one of the triplicates printed on the array yielded data, or for which the standard deviation of log2 ratio for the triplicates was 10.2, were removed from final analysis. Furthermore, we discarded BACs that failed to yield data in <20% of cases. For each hybridization experiment, we established a threshold log2 ratio of 2 SDs from the mean of all autosomal clones, and BACs that exceeded this threshold in both independent dye-swap experiments were classified as variant.
PlatformGPL4010
Comments
ReferenceSharp_et_al_2005
Pubmed ID15918152
Accession Number(s)nssv549259
Frequency
Sample Size48
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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