Table 1.

Methods for CNVs analysis

Base	Method	Applicability	Throughput	Minimum	Data Analysis/	Cost per	Sample Input
	Technique			Resolution	Time to Result	Sample	Requirements
NGS	WES	Whole genome	Low/moderate	single base	2-3 days	High	1–2 μg DNA
	WGS
aCGH	ADM-2 algorithm	Whole genome	High	5–10 kb	>24 h	Moderate	0.5–1 μg DNA
SNP-array	PennCNV	Whole genome	High	2–10 kb	>24 h	Moderate	0.5–1 μg DNA
	QuantiSNP
	iPattern
	CNVpartition
	Affymetrix Genotyping
	Console
PCR	Quantitative PCR	Targeted	High	100 bp	4 h	Low	5–10 ng
	QMPSF	Targeted
	MAQ	Targeted
	MAPH	Targeted	High	100 bp	>24 h	Low	0.5–1 μg DNA
	MLPA	Targeted	High	100 bp	>24 h	Low	100–200 ng DNA