nsv5726963
- 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: 448 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 441 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 26 SVs from 9 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5726963 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 148,971,765 | 148,971,765 | ||
| nsv5726963 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 148,053,295 | 148,053,295 |
| nsv5726963 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004070890.2 | ChrX|NW_00 4070890.2 | 4,496,162 | 4,496,162 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17239531 | line1 insertion | Sequencing | Other |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17239531 | Submitted genomic | NC_000023.11:g.148 971765_148971766in s557 | GRCh38 (hg38) | NC_000023.11 | ChrX | 148,971,765 | 148,971,765 | ||
| nssv17239531 | Remapped | Perfect | NW_004070890.2:g.4 496162_4496163ins5 57 | GRCh37.p13 | First Pass | NW_004070890.2 | ChrX|NW_00 4070890.2 | 4,496,162 | 4,496,162 |
| nssv17239531 | Remapped | Perfect | NC_000023.10:g.148 053295_148053296in s557 | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 148,053,295 | 148,053,295 |