nsv5973938
- 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:1,824,571
- Description:DESC=[BREAKPOINT1]
- 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: 5561 SVs from 97 studies. See in: genome view
Overlapping variant regions from other studies: 5544 SVs from 97 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5973938 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000008.11 | Chr8 | 41,482,982 | 43,307,552 | ||
| nsv5973938 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 41,340,501 | 43,162,695 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17430176 | inversion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17430176 | Submitted genomic | NC_000008.11:g.414 82982_43307552inv | GRCh38 (hg38) | NC_000008.11 | Chr8 | 41,482,982 | 43,307,552 | ||
| nssv17430176 | Remapped | Good | NC_000008.10:g.413 40501_43162695inv | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 41,340,501 | 43,162,695 |