Table 1 Summary of the deletions larger than 1.5 Mb identified in healthy individuals

From: Characteristics of rare and private deletions identified in phenotypically normal individuals

Subject

Chromosome

Band

Start a

End a

Size (Mb)

RefSeq gene numbers included

OMIM gene numbers included b

Numbers of the gene related to haploinsufficiency scores c (Autosomal dominant trait)

Notes

1

chr6

q12–q13

66,231,424

72,860,605

6.63

16

4 (2)

1 (0)

Paternally derived

2

chr3

q11.2–q12.2

94,258,997

100,487,464

6.23

36

3 (1)

1 (0)

Paternally derived

3

chr13

q31.1–q31.3

86,046,386

91,816,350

5.77

18

1 (0)

0 (0)

Paternally derived

4

chr18

q12.2–q12.3

34,959,559

39,389,665

4.43

4

0

0 (0)

Maternally derived

5

chr18

q22.1

63,993,067

66,381,438

2.39

5

0

0 (0)

Identified in a normal individual

ex

chr22

q11.21

18,919,942

21,440,514

2.52

60

12 (1)

5 (1)

 
  1. Abbreviation: ex, a representative example of typical 22q11.2 deletion.
  2. a Genomic positions reffered to build19.
  3. b The numbers in parentheses indicate the numbers of the genes related to autosomal dominant trait.
  4. c This is checked through ClinGen Dosage Sensitivity Curation Page (https://www.ncbi.nlm.nih.gov/projects/dbvar/clingen/).