nsv5974046
- 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:37,708
- 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: 567 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 552 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 81 SVs from 19 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5974046 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 149,488,859 | 149,526,566 | ||
| nsv5974046 | Remapped | Good | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 148,570,390 | 148,608,105 |
| nsv5974046 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004070890.2 | ChrX|NW_00 4070890.2 | 5,013,257 | 5,050,964 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17447296 | inversion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17447296 | Submitted genomic | NC_000023.11:g.149 488859_149526566in v | GRCh38 (hg38) | NC_000023.11 | ChrX | 149,488,859 | 149,526,566 | ||
| nssv17447296 | Remapped | Perfect | NW_004070890.2:g.5 013257_5050964inv | GRCh37.p13 | First Pass | NW_004070890.2 | ChrX|NW_00 4070890.2 | 5,013,257 | 5,050,964 |
| nssv17447296 | Remapped | Good | NC_000023.10:g.148 570390_148608105in v | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 148,570,390 | 148,608,105 |