We also identified a 5000 bp de novo deletion in 2p15 in a female with seizures, developmental delay (2p16.1-p15 deletion syndrome, OMIM #612513, case 4803) which implicates USP34. FGA simultaneously identified and verified such variants and breakpoints without additional copy number prediction tools or external validation required by current short-read sequencing pipelines. Here, USP34 is linked to Global developmental delay.