nsv3195796
- Organism: Homo sapiens
- Study:nstd152 (Chaisson 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:133,158
- 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: 742 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 742 SVs from 78 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3195796 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 194,045,486 | 194,178,643 | ||
| nsv3195796 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 194,910,210 | 195,043,367 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv14264411 | deletion | SAMN00006580 | Optical mapping | Optical mapping | Homozygous | 14,212 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14264411 | Submitted genomic | NC_000002.12:g.(19 4045486_?)_(?_1941 78643)del | GRCh38 (hg38) | NC_000002.12 | Chr2 | 194,045,486 | 194,178,643 | ||
| nssv14264411 | Remapped | Perfect | NC_000002.11:g.(19 4910210_?)_(?_1950 43367)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 194,910,210 | 195,043,367 |