nsv3969531
- 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:30,139
- 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: 174 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 174 SVs from 38 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3969531 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000022.11 | Chr22 | 30,422,554 | 30,452,692 | ||
| nsv3969531 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000022.10 | Chr22 | 30,818,543 | 30,848,679 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv15217999 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv15217999 | Submitted genomic | NC_000022.11:g.(30 422554_?)_(?_30452 692)del | GRCh38 (hg38) | NC_000022.11 | Chr22 | 30,422,554 | 30,452,692 | ||
| nssv15217999 | Remapped | Good | NC_000022.10:g.(30 818543_?)_(?_30848 679)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 30,818,543 | 30,848,679 |