Skip to main content
. 2012 Dec 17;2012:845480. doi: 10.1155/2012/845480

Table 2.

CNVs in the DECIPHER database likely to play a role in obesity.

Chr Genomic rearrangementsa Phenotype(s) DECIPHER
ID
Chr1
 arr 1q12q21.1(141,959,285-147,024,032)x3-inherited (overlap the TAR syndrome and 1q21.1 recurrent microdeletion/microduplication locus) high birth weight (>90th centile)
and 5 other phenotypes		 265628
arr 1q31.1q31.2(187,292,321-191,478,235)x3 dn obesity, general abnormalities, and 7 other phenotypes 3463
Chr2
 arr 2p25.3(53,452-3,194,600)x1 dn obesity, generalized abnormalities, and 7 other phenotypes 258576
arr 2p24.1p23.3(23,826,350-24,923,855)x1-inherited generalized obesity and 4 other phenotypes 255430
arr 2q31.1(170,471,086-175,231,429)x1 dn generalized obesity and 19 other phenotypes 250211
Chr3 arr 3p26.3(768,376-2,367,266)x1 dn truncal obesity and 5 other phenotypes 249965
arr 3q13.2-q13.31(113,681,019-116,466,222)x1 dn truncal obesity and 3 other phenotypes 4673
arr 3q13.31q21.2(116,885,009-125,066,880)x1 dn truncal obesity and 5 other phenotypes 251079
Chr4 arr 4q21.21q21.23(82,301,439-85,425,757)x1 dn high birth weight (>90th centile) and 17 other phenotypes 4539
Chr5 arr 5p15.2p14.1(12,337,356-27,024,241)x1 dn obesity, general abnormalities, and 3 other phenotypes 250008
arr 5p13.2p13.1(35,624,846-39,364,263)x3 dn generalized obesity and 26 other phenotypes
 255925
arr 5q14.3q15(90,230,044-94,799,167)x1 dn truncal obesity and 8 other phenotypes 248692
arr 5q23.1q23.2(116,801,735-124,680,789)x1 dn truncal obesity and 3 other
phenotypes		 261304
Chr6 arr 6q14.1q15(79,381,580-88,100,133)x1 dn obesity, general abnormalities, and 18 other phenotypes 1878
Chr7 arr 7q11.23(72,364,514-73,777,326)x3 dn (overlap WBS locus; GTF2I) generalized obesity and 17 other phenotypes 255467
arr 7q22.1q22.2(102,145,556-105,274,891)x1 dn obesity, general abnormalities,
and 2 other phenotypes		 625
arr 7q22.1q22.3(103,887,195-106,790,044)x1 dn high birth weight (>90th centile) and 6 other phenotypes 4470
Chr8 arr 8p23.1(6,986,631-12,285,366)x3 dn
(overlap 8p23.1 deletion/duplication syndrome; SOX7, CLDN23) 		generalized obesity and 9 other phenotypes 255954
arr 8q12.1(58,181,408-59,144,674)x1 dn generalized obesity and 4 other phenotypes 260283
Chr9 arr 9q21.11(70,791,222-71,030,800)x3-inherited generalized obesity and 2 other phenotypes 251354
arr 9q22.32q22.33(96,375,866-101,058,940)x1 dn high birth weight (>90th centile)
and 11other phenotypes		 1002
arr 9q33.3q34.11(128,990,000-130,220,000)x1 dn generalized obesity and 4 other phenotypes 259586
Chr12 arr 12q13.12q13.13(51,293,317-54,455,978)x3 dn truncal obesity and 12 other phenotypes 248785
arr 12q21.1q25(68,841,926-71,439,458)x1 dn obesity, general abnormalities,
and 10 other phenotypes		 258580/258581
arr 12q21.32q23.1(87,208,712-99,988,990)x3 dn obesity, general abnormalities,
and 12 other phenotypes		 258582
Chr13 arr 13q13.3q14.11(38,442,447-41,548,237)x1 dn high birth weight (>90th centile) and 23 other phenotypes 1304
arr 13q32.3q32.3(100,431,907-100,838,153)x1 dn truncal obesity and 6 other phenotypes 2130
Chr14 arr 14q11.2(20,314,536-21,320,719)x3 dn obesity, general abnormalities, and 15 other phenotypes 258583
arr 14q23.1(56,291,177-57,664,121)x1 dn generalized obesity and 8 other phenotypes 255207
Chr15 arr 15q14q15.3(39,072,646-43,613,803)x1 dn truncal obesity and 5 other phenotypes 1392
arr 15q26.2q26.3(95,128,043-100,168,718)x1 dn (overlap 15q26 overgrowth syndrome) truncal obesity and 3 other phenotypes 2502
Chr16 arr 16p13.11(14,993,254-16,189,808)x3 dn (overlap 16p13.1 1 deletion and duplication syndrome; MYH11) generalized obesity and 10 other phenotypes 2370
arr 16q12.1q21(49,499,378-57,740,601)x3 dn generalized obesity and 9 other phenotypes 248877
arr 16q24.2q24.3(85,897,636-87,862,929)x1 dn generalized obesity and 8 other phenotypes 255327
Chr17 arr 17p13.2(5,537,212-6,197,315)x1-inherited generalized obesity and 8 other phenotypes 254050
arr 17p13.1(6,896,836-7,157,572)x3 dn generalized obesity and 5 other phenotypes 258588
arr 17p13.1(6,920,991-7,767,844)x3 dn generalized obesity and 10 other phenotypes 262186
arr 17p13.1(6,972,362-7,490,406)x3 dn generalized obesity and 24 other phenotypes 256668
arr 17q11.2(26,085,851-27,391,269)x3 dn (overlap NF1 deletion syndrome) generalized obesity and 4 other phenotypes 256904
arr 17q21.31(41,288,423-41,528,254)x3 dn (overlap 17q21.31 deletion/duplication; MAPT) high birth weight (>90th centile) and 7 other phenotypes 249014
Chr19 arr 19p13.12(14,243,780-15,353,848)x1 dn generalized obesity and 15 other phenotypes 255743
arr 19q13.43(58,605,464-59,010,255)x1 dn generalized obesity and 7 other phenotypes 2590
Chr20 arr 20p13(17,408-1,810,420)x3 dn truncal obesity and 22 other phenotypes 250961
arr 20p12.1(14,556,853-14,704,918)x1 dn obesity, general abnormalities, and 4 other phenotypes 249098
Chr22
 arr 22q11.21(20,129,773-21,984,237)x1 dn (overlap DG/VCFS, and 22q11.2 distal deletion syndrome) truncal obesity and 6 other phenotypes 248709
arr 22q11.21q11.22(20,247,200-21,293,000)x1 dn (overlap 22q11.2 distal deletion syndrome; BCR, MAPK1) obesity, general abnormalities, and 4 other phenotypes 250888
ChrX arr Xp22.13p22.12(18,123,941-19,743,555)x1 dn obesity, general abnormalities and 6 other phenotypes 258585
arr Xp11.4p11.3(42,241,552-43,449,256)x1-inherited generalized obesity and 3 other phenotypes 258161
arr Xp11.23(48,639,178-48,956,107)x1 dn (overlap Xp11.22p11.23 microduplication) obesity, general abnormalities,
and 4 other phenotypes		 254343
arr Xq22.11q22.3(101,252,518-105,733,692)x1 dn (overlap Pelizaeus-Merzbacher disease) high birth weight (>90th centile), and 21 other phenotypes 257182
arr Xq27.2(140,225,865-140,521,032)x1 dn generalized obesity and 2 other phenotypes 250330
arr Xq27.3q28 (144,934,242-148,461,832)x1 dn obesity, general abnormalities,
and 10 other phenotypes		 250246
arr Xq27.3q28(145,354,647-148,617,309)x1 dn generalized obesity and 2 other phenotypes 265618

All coordinates are according to build36. Chr.: chromosome; ID: identification; TAR: Thrombocytopenia with absent radius; WBS: Williams-Beuren syndrome.

aAfter excluding CNVs within known genomic disorder regions associated with obesity, CNVs inherited from phenotypically normal parents or with inheritance status unknown, and cases in DECIPHER with more than one variants reported.