Existing Wording: Figure 1: Copy Number Change (62377-7)

Comment:

Definition of copy number variation from illumina : Copy number variations (CNVs) are genomic alterations that result in an abnormal number of copies of one or more genes. Structural genomic rearrangements such as duplications, deletions, translocations, and inversions can cause CNVs. Don't think copy number is the right label for what was previously structural variant. Further, copy number is usually an integer and is another attribute by itself. Structural variants refer to whole chunks of chromosomes. or smaller parts that are not within a gene. Regarding the belief that structureal variants are still discrete - talking about one deletion or one duplication at a time. So would not have to go to "described variant" to avoid the name discrete variant.

Summary:

Comment on label "copy number" for what used to be structural variant