CNVs and structural variants - Structural variation detection

4 important questions on CNVs and structural variants - Structural variation detection

Many forms of strucural variation

  1. Deletion
  2. Novel sequence insertion
  3. Mobile-element insertion
  4. Tandem duplication
  5. Interspersed duplication
  6. Inversion
  7. Translocation

Strategies for detecting strucural variation

  1. Read depth
  2. Split read mapping
  3. Discordant pairs
  4. De novo assembly

For an insert size that is smaller than expected, this may be evidence of?

An insertion
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Translocations almost never happen in germline, but a lot in?

Somatic and cancer

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