nsv3967778
- 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:174,530
- 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: 556 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 556 SVs from 71 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3967778 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000004.12 | Chr4 | 85,201,545 | 85,376,074 | ||
| nsv3967778 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 86,122,698 | 86,297,227 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv15207685 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv15207685 | Submitted genomic | NC_000004.12:g.(85 201545_?)_(?_85376 074)del | GRCh38 (hg38) | NC_000004.12 | Chr4 | 85,201,545 | 85,376,074 | ||
| nssv15207685 | Remapped | Perfect | NC_000004.11:g.(86 122698_?)_(?_86297 227)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 86,122,698 | 86,297,227 |