Table 1.

Potential hotspots of copy number variation in humans and chimpanzees

BAC NameLocation*
Chimpanzee CNVs incidence Human CNVs incidence RefSeq genes (function) §
Chr. location in humansPosition (Mb)
RP1-163M9 1p36.1316.4223
RP6-65F201p32.256.81016 DAB1 (cell differentiation; nervous system development)
RP11-91G121q31.3193.923 CFH (immune response), CFHL3 (unknown)
RP5-963K6 4q35.2191.327
RP11-88L18 5p15.117.51710
AL035696.14 6p25.30.1313
RP11-96G1 8q21.286.6318 REXO1L1 (exonuclease and hydrolase activity)
RP11-130C199p24.30.623 ANKRD15 (cell cycle and growth)
RP11-100C2413q21.155.5529 FLJ40296 (unknown)
RP11-499D5 16p11.233.7411 TP53TG3 (unknown)
C197.417p13.32.523 RUTBC1 (unknown)
MNT (transcription factor; development)
RP11-79F15 19p13.28.7334 ZNF558 (transcription factor), MBD3L1 (transcription factor)
RP11-49J921q21.121.022
RP6-27C10Xp21.328.51216 IL1RAPL1 (learning and/or memory; signal transduction)
AL031643.1Xp21.132.61021 DMD (cytoskeleton; muscle activity)
RP6-64P14Xq25120.7916
RP6-232G24Xq27.2139.71318 MAGEC3 (unknown), MAGEC1 (unknown)
  • *Cytogenetic location and physical position (in Mb) of BAC clones, based on the human reference genome sequence (Build 34).

  • Number of chimpanzees (of 20) for whom gains/losses (relative to the reference chimpanzee individual, Clint) were detected in this study using the 1-Mb aCGH platform.

  • Total number of human individuals for whom gains/losses were detected for the regions overlapping/encompassing a given BAC clone. Human CNV data were collected from different studies (1–4, 7, 8).

  • §RefSeq genes partially or completely contained within the BAC sequence and gene function based on GO categories.

  • These seven clones overlap with ancestral segmental duplications (as classified by ref. 33).