nsv5970331
- 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:142,852
- 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: 857 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 857 SVs from 69 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5970331 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000021.9 | Chr21 | 23,182,203 | 23,325,054 | ||
| nsv5970331 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000021.8 | Chr21 | 24,554,525 | 24,697,376 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17397527 | inversion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17397527 | Submitted genomic | NC_000021.9:g.2318 2203_23325054inv | GRCh38 (hg38) | NC_000021.9 | Chr21 | 23,182,203 | 23,325,054 | ||
| nssv17397527 | Remapped | Perfect | NC_000021.8:g.2455 4525_24697376inv | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 24,554,525 | 24,697,376 |