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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
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Molecular Cytogenetics

ISSN: 1755-8166