Structural Variants Color Code
CNV items in the Genome Browser tracks are coloured by Variant Type. Three levels of
color intensity are used to indicate the Clinical Significance. The lightest shade
indicates benign/likely-benign variants, the darkest shade indicates pathogenic/likely
pathogenic variants, and the medium shade indicates other or no clinical significance
has been defined.
| Variant Type |
Benign |
Other |
Pathogenic |
| Gain |
|
|
|
| Loss |
|
|
|
| Insertion |
|
|
|
| Inversion |
|
|
|
| Structural Alteration |
|
|
|
| Other Sequence Alterations |
|
|
|
Each color category includes various Variant Types:
-
Gain: duplications
(SO:1000035),
tandem duplications
(SO:1000173),
and copy number gains
(SO:0001742)
-
Loss: deletions
(SO: 0000159),
and copy number losses
(SO:0001743)
-
Insertion: insertions
(SO: 0000667),
indels
(SO: 1000032),
and mobile element insertions
(SO: 0001837)
-
Inversion: inversions
(SO: 1000036)
-
Structural Alteration: translocations
(SO: 0000199),
complex structural alterations
(SO: 0001784),
complex chromosomal rearrangements
(SO: 0002062),
fusions
(SO: 0000806),
and multi-allele CNVs
-
Other Sequence Alterations: short tandem repeat expansions
(SO: 0002162),
short tandem repeat contractions
(SO: 0002163),
microsatellites
(SO: 0000289),
and undetermined or undefined alterations