nsv5702193
- 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: 91 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 91 SVs from 28 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5702193 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000014.9 | Chr14 | 20,325,791 | 20,325,791 | ||
| nsv5702193 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000014.8 | Chr14 | 20,793,950 | 20,793,950 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17194660 | alu insertion | Sequencing | Other |
| nssv17230933 | alu insertion | Sequencing | Other |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17194660 | Submitted genomic | NC_000014.9:g.2032 5791_20325792ins28 0 | GRCh38 (hg38) | NC_000014.9 | Chr14 | 20,325,791 | 20,325,791 | ||
| nssv17230933 | Submitted genomic | NC_000014.9:g.2032 5791_20325792ins28 1 | GRCh38 (hg38) | NC_000014.9 | Chr14 | 20,325,791 | 20,325,791 | ||
| nssv17194660 | Remapped | Perfect | NC_000014.8:g.2079 3950_20793951ins28 0 | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 20,793,950 | 20,793,950 |
| nssv17230933 | Remapped | Perfect | NC_000014.8:g.2079 3950_20793951ins28 1 | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 20,793,950 | 20,793,950 |