Table 3.

Novel CNVs enriched in patients with CS (N.A., not applied).

Gene	Type	Chr	Size (bp)	Count in 67 Patients	Count in 125 Controls	Highest Frequency in DGV (Sample Size > 100)	gnomad_ Structural_Variants Frequency (Heterozygous Loss)	gnomad_East Asia_Structural_Variants Frequency (Heterozygous Loss)
LRRC40	deletion	1	30,080–383,938	4	0	0.009556907	0.0000461	0.000
SCN7A	deletion	2	544–11,914	4	0	0.002257336	0.0000461	0.000
MME	deletion	3	279–55,232	4	0	0.000798722	0.0000462	0.000
NAE1	deletion	16	6724–71,803	4	0	N.A.b	0	0.000
TBX6	deletion	16	525,296–723,210	4	0	0.0005	0.0001462	0.000
DHX40	deletion	17	107–2354	10 a	1	0.0000922	0.0025	0.008152
GMCL1	deletion	2	11,694–24,032	5	1	0.001303781	0.0000479	0.000
MYSM1	deletion	1	190–10,053	4	1	0.0000922	0.0000461	0.0004139
RASA2	deletion	3	2892–100,149	4	1	0.00086881	0	0.000
NSMAF	deletion	8	203–12,325	4	1	0.001145475	0	0.000
MNS1	deletion	15	52,610–323,156	4	1	0.00518807	0.0000922	0.000
PHKB	deletion	16	7697–99,254	4	1	0.001198083	0.0000481	0.000
SPO11	deletion	20	730–33,608	4	1	0.00064226	0	0.000
ABCA6	duplication	17	560–13,580	4	1	0.0009219	0	0.000

^a DHX40 has 6 homozygous (listed in Table 2) and 4 heterozygous CNVs. ^b No CNV with sample size more than 100 is found within the NAE1 locus. Note: Detailed information of these novel CNVs is shown in Table S1.