nsv5541742
- Organism: Homo sapiens
- Study:nstd206 (Byrska-Bishop et al. 2022)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:52
- Publication(s):Byrska-Bishop et al. 2022
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 93 SVs from 14 studies. See in: genome view
Overlapping variant regions from other studies: 93 SVs from 14 studies. See in: genome view
Overlapping variant regions from other studies: 3 SVs from 2 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5541742 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 113,314,883 | 113,314,934 | ||
| nsv5541742 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000011.9 | Chr11 | 113,185,605 | 113,185,656 |
| nsv5541742 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871078.1 | Chr11|NW_0 03871078.1 | 497,609 | 497,660 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17052446 | insertion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17052446 | Submitted genomic | NC_000011.10:g.113 314883_113314934in s50 | GRCh38 (hg38) | NC_000011.10 | Chr11 | 113,314,883 | 113,314,934 | ||
| nssv17052446 | Remapped | Perfect | NW_003871078.1:g.4 97609_497660ins50 | GRCh37.p13 | First Pass | NW_003871078.1 | Chr11|NW_0 03871078.1 | 497,609 | 497,660 |
| nssv17052446 | Remapped | Perfect | NC_000011.9:g.1131 85605_113185656ins 50 | GRCh37.p13 | Second Pass | NC_000011.9 | Chr11 | 113,185,605 | 113,185,656 |
No validation data were submitted for this variant
No clinical assertion data were submitted for this variant
Complete genotype and/or allele frequency data for this study can be found on dbVar's FTP site.
Genotype Information
| Variant Call ID | Allele Frequency (AF) | Allele Count (AC) | Allele Number (AN) |
|---|---|---|---|
| nssv17052446 | 0.127 | 751 | 5922 |