A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471628



Internal ID15561142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:20463270..20641683hg38UCSC Ensembl
Innerchr5:20463379..20641792hg19UCSC Ensembl
Innerchr5:20499136..20677549hg18UCSC Ensembl
Innerchr5:20508880..20687293hg16UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg38178414
hg19178414
hg18178414
hg16178414
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv549780, nssv549781, nssv549782
SamplesNA10469, NA10496, NA10492
Known Genes
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)nsv471628
Frequency
Sample Size48
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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