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Functional impact of global rare copy number variation in autism spectrum disorders
The fact that DNA copy number variation is a widespread and common phenomenon among humans was first uncovered [5][6] following the completion of the human genome project.
IIRC, Nature made that sixth reference available as a FReebie then too. It was quite an eye opener. Forget simple Mendelian genetics and just insertions, inversions, deletions, SNPs, etc.