Based on the CNV data, several special CNV regions were identified, including gain peaks containing known breast cancer driver genes such as ERBB2 and NOTCH2, as well as the loss peaks containing some known tumor suppressor genes such as PRDM16 and STK11 (Fig. 2d and Supplementary Data 4, CNV focal peak gene annotation). The gene discussed is PRDM16; the disease is breast cancer.