Variant page top bar

The variant page top bar displays, from left to right:

1

Case ID

2

Gene symbol(s)

3

Variant type

4

Variant type-specific information:

• Small variant and mtDNA: Genomic location and sequence change

• CNV and SV: Chromosome: start-end, length, and CNV/SV type

• STR: Chromosome: start–end, repeat unit, reference number of repeats and alternative number of repeats

• Haplotype: Chromosome: start–end and haplotype name

• LOH/ROH: Chromosome: start–end and length

5

Variant interpretation notes

6

Variant tag

7

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