TABLE 2.

Genomic coordinates and breakpoints of ABCA1 copy-number variations

CNV	Zygosity state	Breakpoint
		Genomic coordinates	Length (bp)	HGVS notation
Exon 4	Heterozygous	chr9:107645536 to chr9:107649333	3,798	g.107645536_107649333delinsATCCA
				c.160_301del
				p.Cys54LeufsTer22
Exons 8 to 31	Heterozygous	chr9:107568343 to chr9:107619540	51,197	g.107568343_107619540del
				c.720_4463del
				p.Arg241_Gln1488del
Full deletion	Heterozygous	chr9:106425268 to chr9:108401467	1,976,200	g.106425268_108401467del

The sequences are in the forward-strand orientation, with genomic coordinates based on the hg19 human genome reference build. chr, chromosome; CNV, copy-number variation; HGVS, Human Genome Variation Society.