nsv3220768
- Organism: Homo sapiens
- Study:nstd152 (Chaisson et al. 2019)
- Variant Type:insertion
- Method Type:Optical mapping
- Submitted on:GRCh38 (hg38)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:205,118
- 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: 1041 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 1041 SVs from 87 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3220768 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 57,147,891 | 57,353,008 | ||
| nsv3220768 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 57,375,026 | 57,580,143 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv14266123 | insertion | SAMN00001694 | Optical mapping | Optical mapping | Heterozygous | 16,419 |
| nssv14266124 | insertion | SAMN00001696 | Optical mapping | Optical mapping | Heterozygous | 45,591 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14266123 | Submitted genomic | NC_000002.12:g.(57 147891_?)_(?_57353 008)ins7373 | GRCh38 (hg38) | NC_000002.12 | Chr2 | 57,147,891 | 57,353,008 | ||
| nssv14266124 | Submitted genomic | NC_000002.12:g.(57 147891_?)_(?_57353 008)ins7373 | GRCh38 (hg38) | NC_000002.12 | Chr2 | 57,147,891 | 57,353,008 | ||
| nssv14266123 | Remapped | Perfect | NC_000002.11:g.(57 375026_?)_(?_57580 143)ins7373 | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 57,375,026 | 57,580,143 |
| nssv14266124 | Remapped | Perfect | NC_000002.11:g.(57 375026_?)_(?_57580 143)ins7373 | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 57,375,026 | 57,580,143 |