Fig. 2
From: Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants
Frequency and types of single-gene copy number variants (CNVs) observed during multigene panel testing. Data represent 454 consecutive single-gene CNVs observed in an approximately six-month time period by a wide variety of multigene panel testing. The Y-axis is the number of observations and the X-axis is the type of CNV. Copy number gains labeled “intragenic” are most often presumed intragenic as location/orientation of the additional material was unknown in the majority of cases. Copy number variants in the “other” category include those involving promoter regions, intronic sequence, or alternative transcripts.
