At a glance
This section displays a description of the variant calls made by Sniffles.
Number of Insertions
648
Number of Deletions
465
Other SV types
21
Chromosomes with SVs
1
Other SV types are: inversions, duplications and translocations.
Variant calling results
This section displays summary statistics of the variant calls made by Sniffles.
| index | BND | DEL | INS | INV |
|---|---|---|---|---|
| Count | 19.0 | 465.0 | 648.0 | 2.0 |
| Min. Length | 0.0 | 30.0 | 30.0 | 618.0 |
| Ave. Length | 0.0 | 79.0 | 128.5 | 1121.0 |
| Max. Length | 0.0 | 30032.0 | 8337.0 | 1624.0 |
ClinVar variant annotations
The SnpEff annotation tool has been used to annotate with ClinVar. Variants with ClinVar annotations will appear in the table below, ranked according to their significance. 'Pathogenic', 'Likely pathogenic', and 'Unknown significance' will be displayed first, in that order. Please note that variants classified as 'Benign' or 'Likely benign' are not reported in this table, but will appear in the VCF output by the workflow. For further details on the terms in the 'Significance' column, please visit this page.
No ClinVar sites to report.
Karyogram
Chromosomal hotspots of structural variation.
Red: Insertion
Blue: Deletion
Size distribution
This section shows the size distributions of SV calls per type. Deletions have negative values.
The plot shows Indels with |length| < 5Kb.
Results evaluation
This report was generated without evaluation results. To see them, re-run the workflow with --sv_benchmark set.