nsv5978275
- Organism: Homo sapiens
- Study:nstd209 (Almarri et al. 2020)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:260
- Description:DESC=[BREAKPOINT2]
- Publication(s):Almarri et al. 2020
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: 117 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 117 SVs from 22 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5978275 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000020.11 | Chr20 | 49,834,476 | 49,834,735 | ||
| nsv5978275 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000020.10 | Chr20 | 48,451,013 | 48,451,272 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17399143 | inversion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17399143 | Submitted genomic | NC_000020.11:g.498 34476_49834735inv | GRCh38 (hg38) | NC_000020.11 | Chr20 | 49,834,476 | 49,834,735 | ||
| nssv17399143 | Remapped | Perfect | NC_000020.10:g.484 51013_48451272inv | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 48,451,013 | 48,451,272 |