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IGV Visualizations

BaseSpace Variant Interpreter includes an embedded Integrative Genomics Viewer (IGV). You can use IGV to view variant details across all tabs and compare it with variants called in the same case or noted in other databases.

To display the variant in IGV, select View in IGV from the Variant column of the Variant Grid. The IGV visualization is displayed in a new browser tab. Use the following options to interact with the visualization.

Zoom into an area of interest.
Pan the visualization by clicking and dragging or by selecting the left and right arrows on the karyogram.
Select an item in the visualization to view additional information about the item.
Show or hide IGV elements.
Karyotype Panel
Track Labels
Center Line
Cursor Guide
Select the track settings icon to change the track view.
Set track name
Set track height
Collapse, squish, or expand exon rows
Remove track

NOTE

The gene model display track reflects the transcript reference standard (Ensembl or Refseq) specified in Settings.

IGV Legend

Track

Description

CNV

Copy number variants are represented by the following colored lines. In cancer samples, the copy number gain and loss colors are reversed compared to germline samples.

Germline sample
Red—Copy number loss
Blue—Copy number gain
Grey—Copy neutral loss of heterozygosity
Pink—Non-specified copy number variation
Cancer sample (Tumor-only or Tumor-Normal )
Blue—Copy number loss
Red—Copy number gain
Grey—Non pass call
Green—LOH

Structural Variants

Structural variants are represented by the following colored lines.

Yellow—Inversion
Pink— Deletion
Blue—Insertion
Blue-green—Tandem duplication
Green—Translocation breakend