NAHR-mediated copy-number variants in a clinical population: Mechanistic insights into both genomic disorders and Mendelizing traits

(Downloading may take up to 30 seconds. If the slide opens in your browser, select File -> Save As to save it.)

Click on image to view larger version.

Figure 2.
Figure 2.

Site frequency spectrum of known pathogenic (de novo, inherited, or unknown origin) deletions and duplications in the MGL BCM CMA database. The most commonly observed regions of genomic instability are NPHP1 duplications (233), CHRNA7 duplications (175), and 22q11.21 deletions (DGS/VCFS, 166).

This Article

  1. Published in Advance May 8, 2013, doi: 10.1101/gr.152454.112 Genome Res. 23: 1395-1409

Preprint Server



Current Issue

  1. February 2026, 36 (2)
  1. Current Issue
  1. Alert me to new issues of Genome Research