nsv3221307
- Organism: Homo sapiens
- Study:nstd152 (Chaisson et al. 2019)
- Variant Type:copy number variation
- Method Type:Optical mapping
- Submitted on:GRCh38 (hg38)
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:199,417
- Publication(s):Chaisson 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: 1768 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 1782 SVs from 82 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3221307 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 55,086,811 | 55,286,227 | ||
| nsv3221307 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000011.9 | Chr11 | 54,854,287 | 55,053,703 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv14254469 | deletion | SAMN00006466 | Optical mapping | Optical mapping | Heterozygous | 14,137 |
| nssv14254470 | deletion | HG00514 | Optical mapping | Optical mapping | Homozygous | 39,861 |
| nssv14254471 | deletion | SAMN00006581 | Optical mapping | Optical mapping | Heterozygous | 41,185 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14254469 | Submitted genomic | NC_000011.10:g.(55 086811_?)_(?_55286 227)del | GRCh38 (hg38) | NC_000011.10 | Chr11 | 55,086,811 | 55,286,227 | ||
| nssv14254470 | Submitted genomic | NC_000011.10:g.(55 086811_?)_(?_55286 227)del | GRCh38 (hg38) | NC_000011.10 | Chr11 | 55,086,811 | 55,286,227 | ||
| nssv14254471 | Submitted genomic | NC_000011.10:g.(55 086811_?)_(?_55286 227)del | GRCh38 (hg38) | NC_000011.10 | Chr11 | 55,086,811 | 55,286,227 | ||
| nssv14254469 | Remapped | Perfect | NC_000011.9:g.(548 54287_?)_(?_550537 03)del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 54,854,287 | 55,053,703 |
| nssv14254470 | Remapped | Perfect | NC_000011.9:g.(548 54287_?)_(?_550537 03)del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 54,854,287 | 55,053,703 |
| nssv14254471 | Remapped | Perfect | NC_000011.9:g.(548 54287_?)_(?_550537 03)del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 54,854,287 | 55,053,703 |