We also investigated the occurrence of reciprocal GSVs at each locus (i.e. duplications instead of deletions and vice versa), applying the same calling criteria (Table S1). Although the overall frequency of reciprocal GSVs was slightly lower compared to those showing reported association with obesity, there was a difference between the two sets of loci: Common obesity GSVs were identified approximately twice as frequently as their reciprocal counterparts, but extreme obesity GSVs were 30% less frequent than reciprocal aberrations. For three GSV loci in particular (those on chromosomes 3, 17 and 22), all originally identified in subjects with DD, there was a clearly higher frequency of the reciprocal event in population cohorts; this is again consistent with the GSVs identified only in DD patients having reduced prevalence in the general population.
