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Table 2 Summary of variants detected via WES

From: Prenatal diagnosis of complete maternal uniparental isodisomy of chromosome 4 in a fetus without congenital abnormality or inherited disease-associated variations

Type of Variants Total Variants Variants on Chromosome 4
Homozygous SNVs 20003 1343
Homozygous MNVs 20 3
Homozygous INDELs 1117 65
Heterozygous SNVs 27360 139a
Heterozygous MNVs 204 15a
Heterozygous INDELs 2531 61a
  1. aAll heterozygosity variants with low quality are likely representative of sequencing errors