nsv5974071
- 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:2,467,668
- 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: 6595 SVs from 110 studies. See in: genome view
Overlapping variant regions from other studies: 3202 SVs from 59 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5974071 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 72,949,644 | 75,417,311 | ||
| nsv5974071 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871064.1 | Chr7|NW_00 3871064.1 | 478,880 | 2,946,547 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17447843 | inversion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17447843 | Submitted genomic | NC_000007.14:g.729 49644_75417311inv | GRCh38 (hg38) | NC_000007.14 | Chr7 | 72,949,644 | 75,417,311 | ||
| nssv17447843 | Remapped | Perfect | NW_003871064.1:g.4 78880_2946547inv | GRCh37.p13 | First Pass | NW_003871064.1 | Chr7|NW_00 3871064.1 | 478,880 | 2,946,547 |