nsv5720698
- Organism: Homo sapiens
- Study:nstd211 (Chuang et al. 2021)
- Variant Type:mobile element insertion
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Description:Insertion of a Alu 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: 396 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 394 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 10 SVs from 5 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5720698 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 54,327,517 | 54,327,517 | ||
| nsv5720698 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 54,353,950 | 54,353,950 |
| nsv5720698 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004070877.1 | ChrX|NW_00 4070877.1 | 4,040,632 | 4,040,632 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17203918 | alu insertion | Sequencing | Other |
| nssv17221404 | alu insertion | Sequencing | Other |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17203918 | Submitted genomic | NC_000023.11:g.543 27517_54327518ins2 74 | GRCh38 (hg38) | NC_000023.11 | ChrX | 54,327,517 | 54,327,517 | ||
| nssv17221404 | Submitted genomic | NC_000023.11:g.543 27517_54327518ins2 80 | GRCh38 (hg38) | NC_000023.11 | ChrX | 54,327,517 | 54,327,517 | ||
| nssv17203918 | Remapped | Perfect | NW_004070877.1:g.4 040632_4040633ins2 74 | GRCh37.p13 | First Pass | NW_004070877.1 | ChrX|NW_00 4070877.1 | 4,040,632 | 4,040,632 |
| nssv17221404 | Remapped | Perfect | NW_004070877.1:g.4 040632_4040633ins2 80 | GRCh37.p13 | First Pass | NW_004070877.1 | ChrX|NW_00 4070877.1 | 4,040,632 | 4,040,632 |
| nssv17203918 | Remapped | Perfect | NC_000023.10:g.543 53950_54353951ins2 74 | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 54,353,950 | 54,353,950 |
| nssv17221404 | Remapped | Perfect | NC_000023.10:g.543 53950_54353951ins2 80 | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 54,353,950 | 54,353,950 |