nsv5976704
- 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:8,630,218
- 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: 22436 SVs from 123 studies. See in: genome view
Overlapping variant regions from other studies: 22446 SVs from 123 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5976704 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000020.11 | Chr20 | 36,955,252 | 45,585,469 | ||
| nsv5976704 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000020.10 | Chr20 | 35,583,655 | 44,214,108 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17393943 | inversion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17393943 | Submitted genomic | NC_000020.11:g.369 55252_45585469inv | GRCh38 (hg38) | NC_000020.11 | Chr20 | 36,955,252 | 45,585,469 | ||
| nssv17393943 | Remapped | Good | NC_000020.10:g.355 83655_44214108inv | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 35,583,655 | 44,214,108 |