Genetic differences that specify unique aspects of human evolution have typically been
identified by comparative analyses between the genomes of humans and closely related
primates, including more recently the genomes of archaic hominins,. Not all regions of the
genome, however, are equally amenable to such study. Recurrent copy number variation
(CNV) at chromosome 16p11. 2 accounts for approximately 1% of cases of autism, and is
mediated by a complex set of segmental duplications, many of which arose recently during …

Acknowledgements We thank families at the participating Simons VIP and SSC sites, as well
as the Simons VIP Consortium. Approved researchers can obtain the Simons VIP dataset,
the SSC dataset, and/or biospecimens by applying at https://base. sfari. org. We thank M.
Chaisson for SMRT WGS data, B. Vernot for archaic introgression data, BJ Nelson and K.
Munson for technical assistance, ML Gage for editorial comments, and T. Brown for
assistance with manuscript preparation. This work was supported by the Paul G. Allen …