nsv5979454
- 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:3,256
- 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: 398 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 398 SVs from 48 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5979454 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000004.12 | Chr4 | 68,478,582 | 68,481,837 | ||
| nsv5979454 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 69,344,300 | 69,347,555 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17410197 | inversion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17410197 | Submitted genomic | NC_000004.12:g.684 78582_68481837inv | GRCh38 (hg38) | NC_000004.12 | Chr4 | 68,478,582 | 68,481,837 | ||
| nssv17410197 | Remapped | Perfect | NC_000004.11:g.693 44300_69347555inv | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 69,344,300 | 69,347,555 |