nsv5729058
- Organism: Homo sapiens
- Study:nstd211 (Chuang et al. 2021)
- Variant Type:mobile element insertion
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Description:Insertion of a L1 mobile element relative to the reference
- Publication(s):Chuang et al. 2021
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: 133 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 131 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 10 SVs from 7 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5729058 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 107,170,617 | 107,170,617 | ||
| nsv5729058 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000006.11 | Chr6 | 107,491,821 | 107,491,821 |
| nsv5729058 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004504300.1 | Chr6|NW_00 4504300.1 | 475,240 | 475,240 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17251017 | line1 insertion | Sequencing | Other |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17251017 | Submitted genomic | NC_000006.12:g.107 170617_107170618in s6017 | GRCh38 (hg38) | NC_000006.12 | Chr6 | 107,170,617 | 107,170,617 | ||
| nssv17251017 | Remapped | Perfect | NW_004504300.1:g.4 75240_475241ins601 7 | GRCh37.p13 | First Pass | NW_004504300.1 | Chr6|NW_00 4504300.1 | 475,240 | 475,240 |
| nssv17251017 | Remapped | Perfect | NC_000006.11:g.107 491821_107491822in s6017 | GRCh37.p13 | Second Pass | NC_000006.11 | Chr6 | 107,491,821 | 107,491,821 |