What’s the Answer? (CNVs vs SVs)

BioStar is a site for asking, answering and discussing bioinformatics questions and issues. We are members of the community and find it very useful. Often questions and answers arise at BioStar that are germane to our readers (end users of genomics resources). Every Thursday we will be highlighting one of those items or discussions here in this thread. You can ask questions in this thread, or you can always join in at BioStar.

This week’s highlighted question is something I am asked in workshops sometimes. Not the first time I’ve seen someone wonder about this in other situations too.

Question: What is the difference between Structural Variants (SVs) and Copy-Number Variants (CNVs)?

Could someone explain the difference between Structural Variants (SVs) and Copy-Number Variants (CNVs)?

Thanks!

Sheila

It was asked a little while ago, but I had other things on deck and I forgot to get back to this. In the meantime there were additional helpful answers, and one that has a particularly useful figure to illustrate the issues. I agree with “Poe” that the paper in that answer is a keeper, and I’ve attached it below so I can find it quickly later when people ask me in workshops! Check out all the answers though.

Reference:

Scherer, S., Lee, C., Birney, E., Altshuler, D., Eichler, E., Carter, N., Hurles, M., & Feuk, L. (2007). Challenges and standards in integrating surveys of structural variation Nature Genetics, 39 (7s) DOI: 10.1038/ng2093