Absolute quantification reveals the stable transmission of a high copy number variant linked to autoinflammatory disease

Table 1 Genotype and allele counts for the age limited SPAID cohort and each subphenotype therein^a

		SPAID^b		Fever		Arthritis		Vesicular Hyaluronosis		Otitis		Amyloidosis^c
		+	-	+	-	+	-	+	-	+	-	+	-
	Genotype
CNV_14.3	2	128	15	93	30	62	28	35	36	31	43	28	13
	4	24	17	20	19	17	15	9	19	2	25	2	4
	6	3	2	1	2	0	3	0	3	1	3	1	0
CNV_16.1	2	3	3	1	3	0	4	0	4	1	4	1	0
	6	25	16	21	18	17	15	9	19	2	25	3	4
	10	127	15	92	30	62	27	35	35	31	42	27	13
	Allele
CNV_14.3	1	280	47	206	79	141	71	79	91	64	111	58	30
CNV_14.3	3	30	21	22	23	17	21	9	25	4	31	4	4
CNV_16.1	1	31	22	23	24	17	23	9	27	4	33	5	4
CNV_16.1	5	279	46	205	78	141	69	79	89	64	109	57	30

^aThe proportion of each cohort (affected/unaffected) was, SPAID (155/34), Fever (114/51), Arthritis (79/46), Vesicular Hyaluronosis (44/58), Otitis (34/71). ^bSPAID negative is equivalent to C1. ^cAmyloidosis (31/17) is not age limited, rather a negative result was determined by post-mortem histopathology

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