Structural variant (SV)
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- Structural variant (SV) search for term
Genomic rearrangements that affect >50 bp of sequence, including deletions, novel insertions, inversions, mobile-element transpositions, duplications and translocations. (Alkan 2011). All sequence variants other than single-nucleotide variants, including block substitutions, insertions or deletions, inversions, segmental duplications and copy-number differences. (Metzker 2010)
