Copy number variants (CNVs) analysis in a deeply phenotyped cohort of individuals with intellectual disability (ID)

Table 1 CNV features comparison in different CNV types

	Common CNVs	Familial CNVs	De novo CNVs	Overall for the cohort
Number of CNVs	479	27	21	527
Patients	78	22	18	78
CNVs/subject	6.14	1.23	1.17	6.77
Mean CNV size (Mb)	0.42	0.70	3.14	0.54
Median CNVs size (Mb)	0.14	0.43	2.46	0.14
Range of CNV size (Mb)	0.01–9.68	0.03–4.36	0.31–9.78	0.01–9.78
Genes/CNV	5.12	7.04	33.1	6.34
Proportion of large CNVs (>1 Mb)	0.14	0.22	0.71	0.17
Proportion of deletion	0.59	0.30	0.67	0.58
Median modified De Vries Score	5	4.5	5	5

ISSN: 1471-2350