Contigs annotated in the GRCh38 reference genome

Ion Reporter™ Software annotates only variants that map to the following contigs as provided in the GRCh38.fasta and GRCh38.fasta.fai files.

The following contigs (sequences) are supported by Ion Reporter™ Software.

Contig Name

Length (bps)

chr1

248956422

chr2

242193529

chr3

198295559

chr4

190214555

chr5

181538259

chr6

170805979

chr7

159345973

chr8

145138636

chr9

138394717

chr10

133797422

chr11

135086622

chr12

133275309

chr13

114364328

chr14

107043718

chr15

101991189

chr16

90338345

chr17

83257441

chr18

80373285

chr19

58617616

chr20

64444167

chr21

46709983

chr22

50818468

chrX

156040895

chrY

57227415

chrM

16569

chr22_KI270879v1_alt

304135

Two kinds of variants are not supported:

  1. Variants that map to a contig we do not support

  2. Variants that map to a masked region

In particular, chr22_KI270879v1_alt is completely masked except for 269,814 - 279,355, which contains only the GSTT1 gene. No amino acid changes are provided for the masked regions. However, gene and transcript information is provided.