nsv5672415
- Organism: Homo sapiens
- Study:nstd207 (Ebert et al. 2021)
- Variant Type:inversion
- Method Type:Optical mapping, Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:671,047
- Publication(s):Ebert et al. 2021
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: 2252 SVs from 106 studies. See in: genome view
Overlapping variant regions from other studies: 2326 SVs from 110 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5672415 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000010.11 | Chr10 | 79,542,902 | 80,213,948 | ||
| nsv5672415 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000010.10 | Chr10 | 81,302,658 | 81,973,704 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv17071675 | inversion | SAMN01096687 | Optical mapping, Sequencing | Optical mapping, Sequence alignment | 1,334 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17071675 | Submitted genomic | NC_000010.11:g.795 42902_80213948inv | GRCh38 (hg38) | NC_000010.11 | Chr10 | 79,542,902 | 80,213,948 | ||
| nssv17071675 | Remapped | Perfect | NC_000010.10:g.813 02658_81973704inv | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 81,302,658 | 81,973,704 |