Table 2

Cases and controls with 16p11.2 BP2–BP-3 distal deletion and duplications

SampleSexChr.Start.hg19End.hg19Size (bp)CNVGenes impacted (n)Inheritance
Cases
 1-0173-004Fchr1628 823 92729 032 293208 366Loss12Paternal
 - A136Fchr1628 753 45129 043 875290 424Loss13NA
 AU4188302Fchr1628 678 52229 054 721376 199Loss17Maternal
 MSSNG00104-003Fchr1628 747 32229 062 921315 599Loss13De novo
 SSC07716Mchr1628 683 32229 055 121371 799Loss14De novo
 1-0193-003Mchr1628 812 32229 078 321269 999Gain12Maternal
 1-0782-004Mchr1628 722 32229 080 321357 999Gain17NA
 7-0049-003Fchr1628 464 32229 550 3211 085 999Gain42Paternal
Controls
 110036021749Mchr1628 814 09829 083 503269 405Loss12NA
  • F, female; M, male; NA, information not available.