Discrepancies in detection of SVs between AMP and CBA studies. (A) Sankey plot showing similarities and differences in tiering by AMP and CBA across cases. Green lines represent clinically significant (Tier 1 and 2) cases. (B) Analysis of the cause of SV discrepancy between AMP and CBA tiering (n = 46). In this figure, “mimicry” is used to describe an identified cytogenetic event that is not as it is reported whereas “cytogenetically cryptic” describes events that were not identified due to limited banding resolution.