nsv5672062
- 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:327,747
- 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: 968 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 948 SVs from 77 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5672062 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000022.11 | Chr22 | 15,576,910 | 15,904,656 | ||
| nsv5672062 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000022.10 | Chr22 | 16,074,203 | 16,401,053 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv17137854 | inversion | SAMN00006580 | Optical mapping, Sequencing | Optical mapping, Sequence alignment | 9,409 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17137854 | Submitted genomic | NC_000022.11:g.155 76910_15904656inv | GRCh38 (hg38) | NC_000022.11 | Chr22 | 15,576,910 | 15,904,656 | ||
| nssv17137854 | Remapped | Good | NC_000022.10:g.160 74203_16401053inv | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 16,074,203 | 16,401,053 |