Table 5.

Informative LCSHs larger than 5 Mb

Patient	LCSH	Array	Chr	Chr band(s)	Coordinates		Size (kb)	Gene(s) of interest & disorder	Confirmed?
					Start	End
1.1	7	SNP 6.0	8	q21.11 q23.1	74259208	106471063	32 212	VPS13B, Cohen syndrome	No. Known polymorphism identified by exon sequencing (c.T9492C, Homozygous C).
		2.7 M		q21.11 q22.3	74144714	103958979	29 814
		Omni1		q21.11 q23.1	74275315	106474543	32 199
		CytoSNP		q21.11 q23.1	74256250	106477669	32 221
10.4	16	SNP 6.0	11	q14.2 q23.1	86714942	118761985	32 047	DPAGT1, Congenital disorder of glycosylation, type 1j (CDG1J), ALG9, Congenital disorder of glycosylation, type 1 l (CDG1L)	Yes. Homozygous c.A322G mutation in exon 3 of DPAGT1 identified by exome sequencing.
		2.7 M		q14.2 q23.1	86640025	112683203	26 043
		CytoSNP		q14.2 q23.3	86714943	118727916	32 013
11.4	24	SNP 6.0	11	q14.1 q24.2	81709865	124226213	42 516	DPAGT1, Congenital disorder of glycosylation, type 1j (CDG1J), ALG9, Congenital disorder of glycosylation, type 1 l (CDG1L)	Yes. Homozygous c.A322G mutation in exon 3 of DPAGT1 identified by exome sequencing.
		2.7 M		q14.1 q23.3	81631409	116681560	35 050
				q23.3 q24.2	118899401	124319838	5 420
		Omni1		q21 q22.3	93339399	103743297	10 404
				q22.3 q24.2	106756061	124224315	17 468
		CytoSNP		q14.1 q24.2	81730470	124222740	42 492
26.9	27	SNP 6.0	2	p21	41858417	46908485	5 050	LRPPRC, Leigh syndrome, French-Canadian type (LSFC)	Yes. Homozygous c.C1119T mutation in exon 9, corresponding to the known major p.A354V present in 97.6% of affected LSFC.
		2.7 M		p21	41794186	46981017	5 187
		CytoSNP		p21	41850116	46912030	5 062

Chr: chromosome.