nsv5974129
- 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:23,106
- 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: 600 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 714 SVs from 75 studies. See in: genome view
Overlapping variant regions from other studies: 116 SVs from 36 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5974129 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 148,280,528 | 148,303,633 | ||
| nsv5974129 | Remapped | Good | GRCh37.p13 | Primary Assembly | Second Pass | NC_000001.10 | Chr1 | 147,752,634 | 147,775,740 |
| nsv5974129 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 5,095,941 | 5,119,046 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17362342 | inversion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17362342 | Submitted genomic | NC_000001.11:g.148 280528_148303633in v | GRCh38 (hg38) | NC_000001.11 | Chr1 | 148,280,528 | 148,303,633 | ||
| nssv17362342 | Remapped | Perfect | NW_003871055.3:g.5 095941_5119046inv | GRCh37.p13 | First Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 5,095,941 | 5,119,046 |
| nssv17362342 | Remapped | Good | NC_000001.10:g.147 752634_147775740in v | GRCh37.p13 | Second Pass | NC_000001.10 | Chr1 | 147,752,634 | 147,775,740 |