Question: What Is The Difference Between Structural Variants (Svs) And Copy-Number Variants (Cnvs)?
8
gravatar for Sheila
7.5 years ago by
Sheila330
United States
Sheila330 wrote:

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

Thanks!

sv genetics cnv • 9.8k views
ADD COMMENTlink modified 7.5 years ago by PoGibas4.8k • written 7.5 years ago by Sheila330
4

CNVs are one of the many types of SVs. So all CNVs are SVs but not all SVs are CNVs

ADD REPLYlink written 7.5 years ago by Irsan7.2k
2

I disagree. A whole-chromosome duplication event is not an SV, but is certainly a CNV. (There are no breakpoints to find, no sequence out of order). I would agree that most CNVs involve SVs.

ADD REPLYlink modified 7.5 years ago • written 7.5 years ago by Chris Miller21k

Admitted, you are right!

ADD REPLYlink written 7.5 years ago by Irsan7.2k
8
gravatar for Chris Miller
7.5 years ago by
Chris Miller21k
Washington University in St. Louis, MO
Chris Miller21k wrote:

Loosely speaking:

Copy number variants - having more or less than the expected two copies of a region of DNA. Can be divided into amplifications and deletions.

Structural variants - rearrangements in the order of sections of the DNA. Can be divided into insertions, deletions, inversions, and translocations (either inter or intra-chromosomal). Can also be complex, involving multiple events at the same location.

ADD COMMENTlink written 7.5 years ago by Chris Miller21k
7
gravatar for PoGibas
7.5 years ago by
PoGibas4.8k
Vilnius
PoGibas4.8k wrote:

Challenges and standards in integrating surveys of structural variation (Nature genetics, 2007).
Please see Figure 1: Lexicon of genomic variation. I was surprised how many types of variants there are.
Really like this paper.

ADD COMMENTlink written 7.5 years ago by PoGibas4.8k
5
gravatar for Giovanni M Dall'Olio
7.5 years ago by
London, UK
Giovanni M Dall'Olio27k wrote:

The MISO Sequence Ontology database is a project to provide official definitions for terms related to sequence annotations.

So, if you look in MISO, you will see that they classify Copy Number Variations as a subclass of Structural Variants (link to definition of Structural Variant in MISO)

Please note that in some literature these terms may have been used with different meaning. The official definition is the one in MISO, but everybody has his own version of the definition.

ADD COMMENTlink written 7.5 years ago by Giovanni M Dall'Olio27k
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