General overview of the 16p11.2 region

Deletions and duplications in the 16p11.2 region (on chromosome 16) are frequent, 1/1000 in the general population.

There are several distinct regions. The proximal region between the BP4 and BP5 should not be confused with the distal region between BP1 and BP3 or between BP2 and BP3 (see the figure below). We are conducting research on both regions.


Select the region of interest for more information :

  • DISTAL

  • BP1-BP3 (28.3-28.9)

    BP2-BP3 (28.7-28.9)

  • PROXIMAL

  • BP4-BP5 (26.9-30.1)


    Notes that little is know about the disease and this is why it's very important for studies to understand how this region can cause difficulties for some individuals carrying a certain rearrangement, and save others with the opposite one.

    If you would like to have more information on how to participate, click here.