We report that some human individuals have as many as 600 OR coding regions at their ~400 intact OR loci.
Importantly, on average 32% of all fully intact OR loci are heterozygously disposed, encoding two different active OR protein variants.
However, it is interesting that 40% of the tested OR loci in this study showed CNVs.
Previously, we have reported a slightly higher number of intact OR loci in Africans as compared to Caucasians [ 26].
Three OR loci bOR1O2, bOR1O4 and bOR9M7, showed the presence of either breed or individual specific CNVs (Table 3).
Finally, we generated a multi-source compendium of 63 OR loci harboring deletion Copy Number Variations (CNVs).
Among the 387 OR loci annotated as intact genes in the reference genome we identified 218 cases for which at least one nonfunctional allele was seen.
We further performed integration of biallelic deletion CNVs for all OR loci, utilizing five different data sources (Additional file 1: Table S1).
As previously seen for segregating pseudogenes [ 26], here too we observe a great inter-individual variation in the combinations of OR loci affected by deletion CNVs.
If these sites, or loci, are different between different populations, however, they may offset each other.
Forensic scientists usually analyze 13 specific locations, or loci, on human chromosomes to obtain a complete DNA profile.
