nsv3971588
- 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: 198 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 123 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 130 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 43 SVs from 17 studies. See in: genome view
Overlapping variant regions from other studies: 4 SVs from 2 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 |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv3971588 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 144,898,888 | 144,898,888 | + | ||
| nsv3971588 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 206,415,604 | 206,415,604 | + | ||
| nsv3971588 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000001.10 | Chr1 | 206,588,964 | 206,588,964 | + |
| nsv3971588 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 1,714,301 | 1,714,301 | + |
| nsv3971588 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871057.1 | Chr1|NW_00 3871057.1 | 406,458 | 406,458 | + |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv15214844 | intrachromosomal translocation | Optical mapping | Optical mapping |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
|---|---|---|---|---|---|---|---|---|---|
| nssv15214844 | Submitted genomic | GRCh38 (hg38) | NC_000001.11 | Chr1 | 144,898,888 | 144,898,888 | + | ||
| nssv15214844 | Submitted genomic | GRCh38 (hg38) | NC_000001.11 | Chr1 | 206,415,604 | 206,415,604 | + | ||
| nssv15214844 | Remapped | Perfect | GRCh37.p13 | First Pass | NW_003871057.1 | Chr1|NW_00 3871057.1 | 406,458 | 406,458 | + |
| nssv15214844 | Remapped | Perfect | GRCh37.p13 | First Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 1,714,301 | 1,714,301 | + |
| nssv15214844 | Remapped | Perfect | GRCh37.p13 | Second Pass | NC_000001.10 | Chr1 | 206,588,964 | 206,588,964 | + |