nsv5975465
- 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:24,315
- 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: 2432 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 1374 SVs from 44 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5975465 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000014.9 | Chr14 | 105,888,577 | 105,912,891 | ||
| nsv5975465 | Remapped | Perfect | GRCh37.p13 | PATCHES | Second Pass | NW_004166863.1 | Chr14|NW_0 04166863.1 | 551,744 | 576,058 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17387150 | inversion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17387150 | Submitted genomic | NC_000014.9:g.1058 88577_105912891inv | GRCh38 (hg38) | NC_000014.9 | Chr14 | 105,888,577 | 105,912,891 | ||
| nssv17387150 | Remapped | Perfect | NW_004166863.1:g.5 51744_576058inv | GRCh37.p13 | Second Pass | NW_004166863.1 | Chr14|NW_0 04166863.1 | 551,744 | 576,058 |