Figure 1. Case 1: Chromosomal Copy Number Variation Profile Demonstrating the Chromosomal Changes (Both Gains and Losses) That Vary From a Diploid Cell With a Full Complement of Chromosomes.

This profile is from a patient after primary enucleation showing overlapping gains and losses in the aqueous humor (AH) and tumor demonstrating that the cell-free DNA in the AH is derived from the tumor. A, Chromosomal copy number variation profile from cell-free DNA in the AH (gain of 1q, 6p, and 17q22-17q25 and loss of 17p13.3-p13.1). B, Chromosomal copy number variation profile from tumor (gain of 1q, 6p, and 17q22-17q25 and loss of 17p13.3-p13.1). C, Overlay of the chromosomal copy number variation profiles (AH is blue, and tumor is red).