nsv3169350
- 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: 123 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 1 SVs from 1 studies. See in: genome view
Overlapping variant regions from other studies: 13 SVs from 5 studies. See in: genome view
Overlapping variant regions from other studies: 7 SVs from 1 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 |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv3169350 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 12,696,192 (-621, +621) | 12,696,192 (-621, +621) | - |
| nsv3169350 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NT_167214.1 | Unplaced|N T_167214.1 | 124,383 (-621, +621) | 124,383 (-621, +621) | - |
| nsv3169350 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NT_167214.1 | Unplaced|N T_167214.1 | 124,383 (-621, +621) | 124,383 (-621, +621) | - | ||
| nsv3169350 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NT_167229.1 | Unplaced|N T_167229.1 | 4,462 (-621, +621) | 4,462 (-621, +621) | - |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14240374 | interchromosomal translocation | DB53 | Sequencing | Paired-end mapping | 125 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
|---|---|---|---|---|---|---|---|---|---|
| nssv14240374 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 12,696,192 (-621, +621) | 12,696,192 (-621, +621) | - |
| nssv14240374 | Remapped | Perfect | GRCh38.p12 | First Pass | NT_167214.1 | Unplaced|N T_167214.1 | 124,383 (-621, +621) | 124,383 (-621, +621) | - |
| nssv14240374 | Submitted genomic | GRCh37 (hg19) | NT_167229.1 | Unplaced|N T_167229.1 | 4,462 (-621, +621) | 4,462 (-621, +621) | - | ||
| nssv14240374 | Submitted genomic | GRCh37 (hg19) | NT_167214.1 | Unplaced|N T_167214.1 | 124,383 (-621, +621) | 124,383 (-621, +621) | - |