nsv511070
- Organism: Homo sapiens
- Study:nstd49 (Teague et al. 2010)
- Variant Type:inversion
- Method Type:Optical mapping
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:379,914
- Publication(s):Teague et al. 2010
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: 929 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 1014 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 17 SVs from 9 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv511070 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 15,298,879 | - | - | 15,678,792 |
| nsv511070 | Remapped | Pass | GRCh37.p13 | Primary Assembly | First Pass | NC_000022.10 | Chr22 | - | 16,314,097 | 16,656,461 | - |
| nsv511070 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000022.8 | Chr22 | 14,673,745 | - | - | 15,053,638 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv622435 | inversion | GM10860 | Optical mapping | Optical mapping | 1,998 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv622435 | Remapped | Good | NC_000022.11:g.(15 298879_?)_(?_15678 792)inv | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 15,298,879 | - | - | 15,678,792 |
| nssv622435 | Remapped | Pass | NC_000022.10:g.(?_ 16314097)_(1665646 1_?)inv | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | - | 16,314,097 | 16,656,461 | - |
| nssv622435 | Submitted genomic | NC_000022.8:g.(146 73745_?)_(?_150536 38)inv | NCBI35 (hg17) | NC_000022.8 | Chr22 | 14,673,745 | - | - | 15,053,638 |