Exomes | Genomes | Total | |
---|---|---|---|
Filters | Pass | No variant | |
Allele Count | 1 | 1 | |
Allele Number | 251462 * | 251462 * | |
Allele Frequency | 0.000003977 | 0.000003977 | |
Grpmax Filtering AF (95% confidence) | — | ||
Number of homozygotes | 0 | 0 |
Warning This variant is covered in fewer than 50% of individuals in gnomAD v4.1.0 exomes. Allele frequency estimates may not be reliable.
1 | 113754 | 0 | 0.000008791 | ||
0 | 16254 | 0 | 0.000 | ||
0 | 34592 | 0 | 0.000 | ||
0 | 10080 | 0 | 0.000 | ||
0 | 18386 | 0 | 0.000 | ||
0 | 21648 | 0 | 0.000 | ||
0 | 30616 | 0 | 0.000 | ||
0 | 0 | 0 | - | ||
0 | 0 | 0 | - | ||
0 | 0 | 0 | - | ||
XX | 0 | 115554 | 0 | 0.000 | |
XY | 1 | 135908 | 0 | 0.000007358 | |
Total | 1 | 245330 | 0 | 0.000004076 |
This variant lifts over to the following GRCh38 variant:
This variant falls on 2 transcripts in 1 gene.
Note The gene symbols shown below are provided by VEP and may differ from the symbol shown on gene pages.
Genomic constraint values displayed are for the region: 15-48782000-48783000
Read more about this constraint.
Expected | Observed | Constraint |
---|---|---|
172 | 157 | Z = 1.15 o/e = 0.91 |
View the genomic constraint values for the 40kb region surrounding this variant: 15-48762215-48802215
Value: 2.086e+3 (exome samples)
Site quality approximation for all singleton variants.
Note: These are site-level quality metrics, they may be unpredictable for multi-allelic sites.