Table 1.

Spontaneous CNVs detected by ROMA. A description of 17 de novo CNVs in 16 subjects is provided, along with the methods used for its validation. The number of unique RefSeq genes within each CNV region is indicated, and when the locus apparently encompasses only a single gene, the gene symbol is listed. Types of validation included (A) higher-resolution microarray scans by 390K ROMA or Agilent 244K CGH, (B) G-banded karyotype, (C) FISH, and (D) microsatellite genotyping. References are listed for four cases where similar de novo CNVs were previously reported in the literature.

Individual	Locus	Start position	Length	CN change	Family type	Diagnosis	Gender	Validation	# Genes	Single-gene targets	Ref.
63-144-2575 and 2667	2q24.2	162,212,720	99,252	Loss	Simplex	Autism	Female	A	1	SLC4A10
61-2710-3	2q37.2-q37.3	236,414,455	6,286,648	Loss	Simplex	Autism	Male	A, B, D	50		(19)
Van69-258900	2q37.3	238,217,066	4,484,037	Loss	Simplex	Autism	Male	A, D	43		(19)
89-3507-1	3p14.2	60,746,033	101,507	Loss	Simplex	Autism	Male	A	1	FHIT
63-562-6612	3p14.2	61,072,100	293,096	Gain	Simplex	Autism	Male	A	1	FHIT
AU010604	6p23	13,997,280	1,264,651	Loss	Multiplex	Autism	Male	A, D	2
	13q14.12-q14.13	44,199,441	1,943,737	Loss				A, D	13
AU072203	7p21.1	15,160,118	151,880	Loss	Simplex	Autism	Male	A	1	FLJ16237
AU032903	10q11.23-q21.2	50,562,149	10,916,362	Gain	Multiplex	Autism	Male	A, B	23
60-3061-4	15q11-q13.33	18,526,971	12,229,800	Gain	Simplex	Autism	Male	A, B	30		(21)
AU077504	16p13.3	5,992,836	207,980	Loss	Simplex	Autism	Female	A, B, C, D	1	A2BP1
CG2061	16p11.2	29,578,715	502,574	Loss	Simplex	Asperger’s	Female	A, C, D	27
71-259100	20p13	75,912	291,959	Loss	Simplex	Autism	Female	A, C, D	7
SK-135-C	20p13	2,785,194	1,169,205	Loss	Simplex	Asperger’s	Male	A, D	23
89-3524-100	22q13.31-q13.33	45,144,027	4,321,856	Loss	Simplex	Autism	Female	A, B, C, D	30		(20)
NA10857	2p16.1	58,394,177	2,786,284	Gain	Control	Unaffected	Male	A	7
AU070807	20p13-p12.3	111,824	5,316,286	Gain	Simplex	Unaffected	Female	A	69