Many of the genes in these regions were also associated when the raw CNV calls were tested using a gene-based approach, including EEF1D and PPP1R13B. Although we found the copy number variation at a chromosome 11 region to be ALS-specific in our sample population, CNVs at this locus in healthy individuals have been recorded previously [45] and are recorded in the Database of Genomic Variants[46] suggesting that this region may not be ALS-specific. This evidence concerns the gene PPP1R13B and amyotrophic lateral sclerosis.