nsv3971567
- 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: 168 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 76 SVs from 13 studies. See in: genome view
Overlapping variant regions from other studies: 165 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 17 SVs from 12 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 |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv3971567 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 43,197,183 | 43,197,183 | + | ||
| nsv3971567 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000021.9 | Chr21 | 9,369,855 | 9,369,855 | + | ||
| nsv3971567 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000017.10 | Chr17 | 41,349,200 | 41,349,200 | + |
| nsv3971567 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000021.8 | Chr21 | 10,208,688 | 10,208,688 | + |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv15206251 | interchromosomal translocation | Optical mapping | Optical mapping |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
|---|---|---|---|---|---|---|---|---|---|
| nssv15206251 | Submitted genomic | GRCh38 (hg38) | NC_000017.11 | Chr17 | 43,197,183 | 43,197,183 | + | ||
| nssv15206251 | Submitted genomic | GRCh38 (hg38) | NC_000021.9 | Chr21 | 9,369,855 | 9,369,855 | + | ||
| nssv15206251 | Remapped | Perfect | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 41,349,200 | 41,349,200 | + |
| nssv15206251 | Remapped | Perfect | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 10,208,688 | 10,208,688 | + |