Table 3.

CNV results from CMA and EPIC array

Molecular cohort	ID	CMA Start (hg19)*	CMA End (hg19)*	CMA length (Mbp)	EPIC Start (hg19)	EPIC End (hg19)	EPIC length (Mbp)
PHMDS-Small Del/Mut	MS2449	NA	NA	NA	NA	NA	NA
PHMDS-Small Del/Mut	MS2452	NA	NA	NA	NA	NA	NA
PHMDS-Small Del/Mut	MS2453	NA	NA	NA	NA	NA	NA
PHMDS-Small Del/Mut	MS2455	NA	NA	NA	NA	NA	NA
PHMDS-Small Del/Mut	MS2457	NA	NA	NA	NA	NA	NA
PHMDS-Small Del/Mut	MS2676	51,137,326	51,150,064	0.01	51,135,138	51,147,735	0.013
PHMDS-Small Del/Mut	MS2675	51,137,243	51,150,025	0.01	51,135,138	51,147,735	0.013
PHMDS-Small Del/Mut	MS2450	51,121,362	51,183,855	0.06	51,123,475	51,225,561	0.1
PHMDS-Small Del/Mut	MS2456	50,566,503	51,244,566	0.68	50,580,743	51,225,561	0.64
PHMDS-Small Del/Mut	MS2454	50,429,645	51,244,566	0.81	50,248,907	51,225,561	0.98
PHMDS-Large Del	MS2463	49,228,863	51,178,150	1.95	49,238,268	51,225,561	1.99
PHMDS-Large Del	MS2444	48,896,156	51,219,009	2.32	48,872,890	51,225,561	2.35
PHMDS-Large Del	MS2443	48,654,949	51,197,716	2.54	48,651,166	51,214,353	2.56
PHMDS-Large Del	MS2441	48,224,354	51,244,566	3.02	48,231,823	51,225,561	2.99
PHMDS-Large Del	MS2445	47,731,071	51,193,680	3.46	47,557,457	51,225,561	3.67
PHMDS-Large Del	MS2447	46,885,541	51,244,566	4.36	46,895,349	51,225,561	4.33
PHMDS-Large Del	MS2442	46,505,605	51,244,566	4.74	46,507,241	51,214,353	4.71
PHMDS-Large Del	MS2440	46,464,060	51,244,566	4.78	46,458,783	51,221,675	4.76
PHMDS-Large Del	MS2458	46,080,136	51,244,566	5.16	46,084,862	51,225,561	5.14
PHMDS-Large Del	MS2465	45,576,757	51,178,264	5.6	45,558,433	51,225,561	5.67
PHMDS-Large Del	MS2462	45,277,036	51,178,258	5.9	45,250,061	51,225,561	5.98
PHMDS Small Del/Mut *	MS2460	42,578,595	50,296,515	7.72	NA	NA	NA

NA (not available): samples with intragenic variants in SHANK3 gene and mosaic PHMDS case. *Mosaic case. CNV copy number variants, CMA chromosome microarray analysis