nsv3169340
- Organism: Homo sapiens
- Study:nstd158 (Cleal et al. 2019)
- Variant Type:translocation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Publication(s):Cleal et al. 2019
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: 129 SVs from 15 studies. See in: genome view
Overlapping variant regions from other studies: 2 SVs from 2 studies. See in: genome view
Overlapping variant regions from other studies: 128 SVs from 15 studies. See in: genome view
Overlapping variant regions from other studies: 12 SVs from 5 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv3169340 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 52,229,204 (-496, +496) | 52,229,204 (-496, +496) | + |
| nsv3169340 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NT_167214.1 | Unplaced|N T_167214.1 | 137,163 (-496, +496) | 137,163 (-496, +496) | + |
| nsv3169340 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 50,306,564 (-496, +496) | 50,306,564 (-496, +496) | + | ||
| nsv3169340 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NT_167214.1 | Unplaced|N T_167214.1 | 137,163 (-496, +496) | 137,163 (-496, +496) | + |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14240367 | interchromosomal translocation | DB93 | Sequencing | Paired-end mapping | 27 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
|---|---|---|---|---|---|---|---|---|---|
| nssv14240367 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 52,229,204 (-496, +496) | 52,229,204 (-496, +496) | + |
| nssv14240367 | Remapped | Perfect | GRCh38.p12 | First Pass | NT_167214.1 | Unplaced|N T_167214.1 | 137,163 (-496, +496) | 137,163 (-496, +496) | + |
| nssv14240367 | Submitted genomic | GRCh37 (hg19) | NC_000017.10 | Chr17 | 50,306,564 (-496, +496) | 50,306,564 (-496, +496) | + | ||
| nssv14240367 | Submitted genomic | GRCh37 (hg19) | NT_167214.1 | Unplaced|N T_167214.1 | 137,163 (-496, +496) | 137,163 (-496, +496) | + |