Notably, our novel CNVR region_197, which has a frequency of 2% and includes copy number loss in Caucasian, overlaps with solute carrier family 25 gene (OMIM 212138) which is related to Carnitine-acylcarnitine translocase deficiency. The gene discussed is SLC25A20; the disease is hyperinsulinemic hypoglycemia, familial, 4.