Figure 1. An Integrative Genomics Viewer Snapshot, Showing Long-Read Sequencing Reads Overlapping the Notch Homolog 2 N-Terminal-Like C (NOTCH2NLC) 5′ Region for Patient 2 and a Negative Control Sample.

Purple boxes denote insertions, with the number within indicating insertion size. Reads harboring long (>141–base pair) insertions are highlighted.