. 2024 Jan 8;16:5. doi: 10.1186/s13073-023-01265-5

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

Cytogenic band	Chr	CNVR start	CNVR end	Size [kb]	GD	Disease associations
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