nsv3198543
- 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:135,866
- 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: 320 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 320 SVs from 46 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3198543 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 80,945,501 | 81,081,366 | ||
| nsv3198543 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 81,172,625 | 81,308,490 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv14265439 | deletion | HG00512 | Optical mapping | Optical mapping | Homozygous | 13,827 |
| nssv14265440 | deletion | HG00514 | Optical mapping | Optical mapping | Homozygous | 39,861 |
| nssv14265441 | deletion | SAMN00001696 | Optical mapping | Optical mapping | Homozygous | 45,591 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14265439 | Submitted genomic | NC_000002.12:g.(80 945501_?)_(?_81081 366)del | GRCh38 (hg38) | NC_000002.12 | Chr2 | 80,945,501 | 81,081,366 | ||
| nssv14265440 | Submitted genomic | NC_000002.12:g.(80 945501_?)_(?_81081 366)del | GRCh38 (hg38) | NC_000002.12 | Chr2 | 80,945,501 | 81,081,366 | ||
| nssv14265441 | Submitted genomic | NC_000002.12:g.(80 945501_?)_(?_81081 366)del | GRCh38 (hg38) | NC_000002.12 | Chr2 | 80,945,501 | 81,081,366 | ||
| nssv14265439 | Remapped | Perfect | NC_000002.11:g.(81 172625_?)_(?_81308 490)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 81,172,625 | 81,308,490 |
| nssv14265440 | Remapped | Perfect | NC_000002.11:g.(81 172625_?)_(?_81308 490)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 81,172,625 | 81,308,490 |
| nssv14265441 | Remapped | Perfect | NC_000002.11:g.(81 172625_?)_(?_81308 490)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 81,172,625 | 81,308,490 |