Table 4.

Copy number variations identified on the NMD-CGH-array during the validation process and the subsequent diagnostic runs

Sample ID	Gene	Variation	Size	Coverage group
1	DMD partial deletion	ChrX.hg19:g.(32,551,900_32,563,471)_(32,953,942_32,978,285)del	390,471–466,385 bp	3
1, 2, 8, 13	TTN SD loss	Chr2.hg19:g.(179,516,753_179,517,001)_(179,528,302_179,528,842)del	11,301–12,089 bp	2
5, 9, 19, 25	TTN SD gain	Chr2.hg19:g.(179,516,799_179,517,346)_(179,528,170_179,529,256)dup	10,824–12,457 bp	2
29	NEB TRI loss	Chr2.hg19:g.(152,433,608_152,434,494)_(152,464,242_152,464,694)del	29,748–31,086 bp	1
25	NEB TRI gain	Chr2.hg19:g.(152,433,608_152,434,494)_(152,466,075_152,466,085)dup	31,581–32,477 bp	1
3, 38	OBSL1 upstream duplication	Chr2.hg19:g.(220,438,234_220,439,293)_(220,460,509_220,569,618)dup	21,216–131,384 bp	2
8	NEB partial deletion	Chr2.hg19:g.(152,434,836_152,435,622)_(152,554,712_152,561,404)del	109,090–126,568 bp	1
15 [20]	TTN partial deletion	Chr2.hg19:g.(179,630,403_179,630,386)_(179,636,145_179,636,177)del	5,754–5,774 bp	2
16	LDBH partial deletion	Chr12.hg9:g.(21,803,624_ 21,806,090)_(21,811,051_ 21,812,528)del	4,961–8,904 bp	3
17	DMD partial deletion	ChrX.hg19:g.(30,843,289_31,086,990)_(31,313,100_31,327,408)del	226,110–484,119 bp	3
18	MYOM1 partial duplication	Chr18.hg19:g.(3,155,151_3,155,985)_(3,653,512_3,815,684)dup	497,527–660,533 bp	3
20	PYGM duplication	Chr11.hg19:g.(64,155,908_64,440,343)_(64,553,037_64,758,928)dup	112,694–603,020 bp	3
21	MYH6+MYH7 partial duplication	Chr14.hg19:g.(23,859,986_23,859,988)_(23,889,063_23,889,443)dup	29,075–29,457 bp	2
36	ANO5 upstream deletion	Chr11.hg19:g.(21,579,750_21,931,190)_(22,207,427_22,208,122)del	276,237–628,372 bp	2
46	COL6A3 upstream deletion	Chr2.hg19:g.(238,318,105_238,322,413)_(238,346,871_238,440,079)dup	23,458–121,974 bp	3