Table 1 45 disease-associated CNV regions. Cytogenic band and genomic coordinates (GRCh37/hg19) of the 45 unique, non-overlapping, disease-associated CNV regions (CNVRs) depicted on the x-axis of Fig. 2. For each CNVR, length in kilobase pairs is given (“Size”). “GD” indicates whether the CNVR matches any of the 92 genomic disorders (GD) compiled by Crawford et al. [24]: Y = “yes”; * = partial overlap with the 22q11.2 distal CNVR (chr22:21,920,000–23,650,000). Disease associations mapping to that CNVR are listed, with bold font indicating that the association is likely mediated by increased body mass index (BMI). All the models through which the association was detected at genome-wide significance are indicated in superscript: “U” = U-shape model; “ + ” = duplication-only model; “ − ” = deletion-only model; “M” = mirror model; CKD = chronic kidney disease; AKI = acute kidney injury

1p36.21

1

12,854,105

13,038,285

184

Pulmonary embolism^U,+,M

1q21.1-1q21.2

1

146,478,785

147,832,715

1,354

Y

Chronic obstructive pulmonary disease^U,+, emphysema^+,M, iron deficiency anemia^U,+

2p12

2

78,376,475

78,680,202

304

Disorders of bilirubin metabolism^{U, −,M}

3p26.3

3

2,141,411

2,465,091

324

Asthma^+,M

3p12.2

3

80,344,634

83,400,564

3,056

Disorders of mineral metabolism^−,M

3q29

3

196,953,177

197,331,898

379

Y

Alzheimer’s disease^U

4q28.3

4

136,510,759

136,952,267

442

Cornea diseases^{U, −,M}

4q35.1-4q35.2

4

186,687,554

187,182,384

495

Cornea diseases^U

5p14.3

5

20,254,182

20,924,403

670

Systemic lupus erythematosus^U

6p25.1

6

4,235,784

4,658,277

422

Endometriosis^−,M

6q26

6

162,705,164

162,873,489

168

Sleep disorders^−,M

7p22.1-7p21.3

7

7,260,027

7,504,011

244

Aplastic anemia^U

7p21.2

7

15,074,783

15,249,515

175

Bipolar disorder^−,M

7q31.2-7q31.31

7

117,399,981

119,333,169

1,933

Chronic obstructive pulmonary disease^U,+,M

7q36.3

7

158,530,132

158,953,160

423

Ovarian cancer^U,+,M

8p22

8

17,599,136

17,719,930

121

Cardiac valve disorders^U

10p14

10

6,677,540

6,833,390

156

Epilepsy^U

10q26.3

10

135,217,002

135,237,176

20

Sleep apnea⁻

11p15.4

11

5,322,902

5,417,034

94

Parkinson’s disease^{U, −,M}

12q24.33

12

131,611,538

131,825,359

214

Psoriasis^+,M

15q13.2-15q13.3

15

30,912,719

32,516,949

1,604

Y

AKI⁺, anemia^U,+, asthma^−,M, hemorrhagic stroke^U

15q26.3

15

101,319,208

101,613,151

294

Vitamin B12 anemia^U,+,M

16p13.13-16p13.12

16

12,516,765

12,659,427

143

Sleep apnea^U

16p13.11

16

15,120,501

16,353,166

1,233

Y

Epilepsy⁻, hypertension^U, kidney stones⁻

16p12.2

16

21,946,523

22,440,319

494

Y

Cardiac conduction disorders^{U, −,M}, disease burden^{U, −,M}, hypertension^−,M, pneumonia⁻,

16p11.2 BP2-BP3

16

28,775,159

29,043,450

268

Y

Anemia⁻, cholelithiasis^−,M

16p11.2 BP4-BP5

16

29,596,230

30,208,637

612

Y

AKI^{U, −,M}, anemia^{U, −}, asthma⁻, bipolar disorder^U,+,M, chronic obstructive pulmonary disease^{U, −,M}, CKD^{U, −}, disease burden^{U, −,M}, epilepsy⁻, hypertension⁻, lipidemias and lipoprotein disorders⁻, pneumonia^{U, −,M}, recurrent depressive disorder^U,+,M, schizophrenia^U,+,M, sleep apnea^−,M, type I diabetes⁻, vitamin B12 anemia^U

16q23.3

16

82,954,230

83,133,760

180

Emphysema⁻

17p13.3

17

631,380

738,187

107

Epilepsy^−,M

17p13.2

17

4,378,105

4,498,641

121

Pulmonary embolism^M

17q12

17

34,755,219

36,249,489

1,494

Y

CKD^U,+,M

17q21.31

17

41,197,733

41,276,111

78

Ovarian cancer^−,M

18p11.32

18

685,968

1,266,259

580

Kidney stones^U,+

19p13.3

19

6,873,527

6,881,286

8

Systemic lupus erythematosus^U,+,M

19p13.2

19

11,210,904

11,218,188

7

Ischemic heart disease⁻

20p12.1

20

14,523,969

14,652,973

129

Gout^U

22q11.21

22

19,024,651

21,463,545

2,439

Y

Aneurysm⁻, headaches^+,M, ischemic heart disease^U,+,M

22q11.21-22q11.22

22

21,797,101

22,661,627

865

*

Disorders of mineral metabolism^−,M

22q11.23

22

23,627,256

23,658,006

31

*

Disorders of bilirubin metabolism^−,M

22q12.1

22

25,929,538

25,994,013

64

Glaucoma^{U, −}

Xp22.33

X

1,746,850

2,046,202

299

Sleep apnea^M

Xp22.33

X

2,128,228

2,361,712

233

Disease burden^U,+,M

Xp22.33

X

2,814,160

2,945,477

131

Celiac disease^U

Xp22.11

X

22,946,631

23,087,940

141

Ovarian cancer^{U, −,M}

Xq28

X

152,703,776

152,887,811

184

Ovarian cancer^U,+,M