nsv3971589
- Organism: Homo sapiens
- Study:nstd168 (Levy-Sakin et al. 2019)
- Variant Type:translocation
- Method Type:Optical mapping
- Submitted on:GRCh38 (hg38)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Publication(s):Levy-Sakin 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: 360 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 114 SVs from 19 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: 954 SVs from 33 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 |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv3971589 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 144,008,448 | 144,008,448 | + | ||
| nsv3971589 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 206,280,786 | 206,280,786 | + | ||
| nsv3971589 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871057.1 | Chr1|NW_00 3871057.1 | 271,640 | 271,640 | + |
| nsv3971589 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 823,861 | 823,861 | + |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv15218078 | intrachromosomal translocation | Optical mapping | Optical mapping |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
|---|---|---|---|---|---|---|---|---|---|
| nssv15218078 | Submitted genomic | GRCh38 (hg38) | NC_000001.11 | Chr1 | 144,008,448 | 144,008,448 | + | ||
| nssv15218078 | Submitted genomic | GRCh38 (hg38) | NC_000001.11 | Chr1 | 206,280,786 | 206,280,786 | + | ||
| nssv15218078 | Remapped | Perfect | GRCh37.p13 | First Pass | NW_003871057.1 | Chr1|NW_00 3871057.1 | 271,640 | 271,640 | + |
| nssv15218078 | Remapped | Perfect | GRCh37.p13 | First Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 823,861 | 823,861 | + |