nsv3962049
- Organism: Homo sapiens
- Study:nstd168 (Levy-Sakin et al. 2019)
- Variant Type:copy number variation
- Method Type:Optical mapping
- Submitted on:GRCh38 (hg38)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:245,262
- 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: 825 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 825 SVs from 64 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3962049 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 50,114,517 | 50,359,778 | ||
| nsv3962049 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 50,341,655 | 50,586,916 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv15213035 | deletion | Optical mapping | Optical mapping |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15213035 | Submitted genomic | NC_000002.12:g.(50 114517_?)_(?_50359 778)del | GRCh38 (hg38) | NC_000002.12 | Chr2 | 50,114,517 | 50,359,778 | ||
| nssv15213035 | Remapped | Perfect | NC_000002.11:g.(50 341655_?)_(?_50586 916)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 50,341,655 | 50,586,916 |