At a glance

This section displays a description of the variant calls made by Sniffles.

Number of Insertions

96

Number of Deletions

78

Other SV types

1

Chromosomes with SVs

23

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
Count 1.0 78.0 96.0
Min. Length 0.0 30.0 30.0
Ave. Length 0.0 78.5 101.0
Max. Length 0.0 1810.0 2785.0

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.

Software versions

Name Version
pysam 0.22.1
Truvari v4.3.1
Sniffles2 2.6.3
bcftools 1.15.1
samtools 1.20
seqtk line 8

Workflow parameters

Key Value
out_dir /home/usuario/epi2melabs/instances/wf-hereditary-cancer_01M2GGC8ZRPEP156W9D3WKNMV7/output
sv True
snp True
str False
mod True
bam_min_coverage 10
depth_window_size 25000
annotation False
phased True
include_all_ctgs False
output_report True
haplocheck False
igv True
cluster_merge_pos 150
min_sv_length 30
sv_benchmark False
ref_pct_full 0.1
var_pct_full 0.7
snp_min_af 0.08
indel_min_af 0.15
min_cov 2
min_mq 5
min_qual 2
min_contig_size 0
refine_snp_with_sv True
force_strand False
depth_intervals False
GVCF False
base_err 0.001
gq_bin_size 5
downsample_coverage False
downsample_coverage_target 60
downsample_coverage_margin 1.1
output_xam_fmt bam
alignment_report_coverage_threshold 30
threads 4
ubam_map_threads 8
ubam_sort_threads 3
ubam_bam2fq_threads 1
modkit_threads 4
sample_name OMICS_14
bam /var/lib/minknow/data/20260902/HCP_sample_4_5_6/20260902_1532_P2S-03417-B_PBM52225_4f92217b/bam_pass/barcode05
store_dir /home/usuario/epi2melabs/data
sv_benchmark_vcf None
sv_benchmark_bed None
coverage_bed /home/usuario/epi2melabs/data/nanoporetech/wf-hereditary-cancer-coverage-bed/1/HCP_Exon.bed
ref /home/usuario/epi2melabs/data/nanoporetech/wf-hereditary-cancer-ref/1/HCP_hg38_alt.masked.fasta
bed /home/usuario/epi2melabs/data/nanoporetech/wf-hereditary-cancer-bed/1/HCP_Gene.bed
sex None
mitogenome None
override_basecaller_cfg None
clair3_model_path None
ctg_name None
vcf_fn None
tr_bed None
min_read_support auto
min_read_support_limit 2
sniffles_args None
modkit_args None
partner None