Genome-wide association study of copy number variation with lung function identifies a novel signal of association near BANP for forced vital capacity

Table 1 Platform probes, samples and CNVRs clustered

Cohort	BHS	YFS	B58C	SHIP	Raine	ALSPAC
Platform	Illumina 660	Illumina 670	Illumina 1.2 M	Affymetrix 6	Illumina 660	Illumina 550
Autosomal SNP probes	573462	580030	1115905	909508	578525	580694
CNV probes^a	62092	63617	75114	945805	62138	0
Samples used in CNVR clustering	3496	2682	2920	4072	1685	9382
No. CNVRs clustered within cohort	1962	1933	1540	721	1929	491
Percentage of deletion/amplification/multiallelic	43.9/34.0/22.1	44.0/33.9/22.1	46.1/34.0/19.9	38.6/40.7/20.7	44.0/34.0/22.0	43.6/40.5/16.0
No. CNVRS consistently clustered with BHS	1962	393	855	224	838	11
Percentage of deletion/amplification/multiallelic	43.9/34.0/22.1	52.7/24.7/22.6	51.3/27.8/20.8	57.6/23.2/19.2	52.5/28.3/19.2	72.7/27.3/0

^aA CNV probe is a monomorphic probe targeted in regions of known copy number variation

ISSN: 2730-6844