What is structural variants (SV)?
Updated: Mar 4
S Structural variation (SV) is generally defined as a region of DNA approximately 1 kb and larger in size and can include inversions and balanced translocations or genomic imbalances (insertions and deletions), commonly referred to as copy number variants (CNVs). These CNVs often overlap with segmental duplications, regions of DNA >1 kb present more than once in the genome, copies of which are >90% identical. If present at >1% in a population a CNV may be referred to as copy number polymorphism (CNP) .