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Table 1 Previously reported (A) and novel (B) CNVs

From: Large-scale copy number variants (CNVs): Distribution in normal subjects and FISH/real-time qPCR analysis

  Number Cytoband Clone Name Position (Mb) Ethnic origin Duplication Deletion Overlap with segmental duplications Genes on OMIM list Biological process
Group A 1 1p36.13 RP1-163M9* 16.1 AA 1   Yes   
  2 1p13.3 RP11-259N12 103.4 2C, AA, 2H 3 2 Yes AMY2A, AMY1A, AMY1B, AMY1C Glycogen metabolism
  3 1q42.13 RP5-1016N21 229.7 C, H   2 No   
  4 2p12 RP11-345F13 82.8 AA 1   No   
  5 2qter RP5-1011O17 242.9 C, 2H   3 Yes   
  6 3q26.3 RP11-114M1 178.8 H   1 No   
  7 4q25 RP11-18D18 112.7 H   1 No   
  8 6pter AL035696.14 0.1 H   1 Yes   
  9 6q12 RP11-80L16 67 AA   1 No   
  10 6q24.1 RP1-69B13 146.7 H   1 No GRM1 G-protein mediated signaling, neuronal activities
  11 7pter RP1-164D18 0.1 AA 1   No   
  12 7p21.1 IIID11 18.8 C 1   No   
  13 8p22 RP11-89M16 17.2 C   1 No SLC7A2, PDGFRL Amino acid transport, receptor protein tyrosine kinase signaling pathway
  14 10qter CTC-261B16 135.2 AA 1   No   
  15 11q22.3 RP11-179B7 104.4 AA   1 No   
  16 12p13.2 RP11-144O23 10.9 H 1   No TAS2R7, TAS2R8, TAS2R9, TAS2R10, PRR4, PRH1, TAS2R13, PRH2, TAS2R14 Taste receptor activity, visual perception, cell adhesion-mediated signaling, immunity and defense
  17 13q21.1 RP11-100C24 56.7 4C, AA, 4H 5 4 No   
  18 14q12 RP11-125A5 27.6 C, 3H 2 2 No   
  19 15q11.2 RP11-80H14 20.4 H 1   No CYFIP1 Signal transduction, developmental processes
  20 16p11.2 RP11-499D5 * 33.8 H   1 Yes   
  21 16p11.2 RP11-488I20 * 35.6 H 1   No   
  22 16p11.1 RP11-80F22 * 35.7 C, 2H 3   No   
  23 17pter CTB-68F18 0.1 C 1   No RPH3AL Synaptic transmission
  24 17q24.3 RP11-300G13 68.6 H   1 No KCNJ16, KCNJ2 Cation transport, muscle contraction
  25 19p13.2 RP11-79F15 8.8 C, 2AA, 2H 1 4 Yes MBD3L1, MUC16 mRNA transcription
  26 19qter 1129-c9 76 C 1   No   
Group B 1 2q14.3 RP11-270M20 125.3 C 1   No CNTNAP5 Cell adhension-mediated signaling, synaptic transmission
  2 4q28.1 RP11-77P11 128.2 H   1 No   
  3 4q31.2 RP11-89E4 145.8 H 1   No   
  4 6p24 RP1-103M22 9.5 H   1 No   
  5 7q33 RP11-140I14 134.6 AA 1   No CNOT4 mRNA transcription regulation
  6 10p12.3 RP11-91D9 19.7 H   1 No   
  7 12pter RP11-598F7 * 0 C 1   No SLC6A12 neurotransmitter transport
  8 13q13.1 RP11-87G1 33 AA 1   No   
  9 19q13.43 F21283 63.7 H 1   No MZF1 regulation of transcription
  10 Xpter LLNOYCO3M11D2 0 3C, AA 2 2 No   
  11 Xp11.3 RP11-252K10 41.7 H   1 No   
  12 Xp11.21 RP11-266I3 * 53.7 AA 1   Yes   
  13 Xp11.1 ICRFC100G11100 56.1 C 1   No   
  14 Xq21.1 RP11-192B18 84.4 H   1 No   
  15 Xq26.2 CTB-45B24 131.4 H   1 No PCYT1B, PHF6 Regulation of metabolism and transcription, ovarian follicle development, spermatogenesis
  16 Yq11.2 RP11-91A13 * 17.7 AA 1   Yes   
  1. Note: * Clone showing multiple sites based on e-FISH.
  2. AA: African American; H: Hispanic; C: Caucasian.