nsv3558511
- Organism: Homo sapiens
- Study:nstd152 (Chaisson et al. 2019)
- Variant Type:mobile element insertion
- Method Type:Optical mapping, Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Description:Insertion of a L1 mobile element relative to the reference
- 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: 391 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 391 SVs from 30 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3558511 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000005.10 | Chr5 | 1,456,596 | 1,456,596 | ||
| nsv3558511 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 1,456,711 | 1,456,711 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14425578 | line1 insertion | HG00514 | Optical mapping, Sequencing | Optical mapping, Sequence alignment, de novo and local sequence assembly | 39,861 |
| nssv14467515 | line1 insertion | SAMN00006581 | Optical mapping, Sequencing | Optical mapping, Sequence alignment, de novo and local sequence assembly | 41,185 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14425578 | Submitted genomic | NC_000005.10:g.145 6596_1456597ins60 | GRCh38 (hg38) | NC_000005.10 | Chr5 | 1,456,596 | 1,456,596 | ||
| nssv14467515 | Submitted genomic | NC_000005.10:g.145 6596_1456597ins60 | GRCh38 (hg38) | NC_000005.10 | Chr5 | 1,456,596 | 1,456,596 | ||
| nssv14425578 | Remapped | Perfect | NC_000005.9:g.1456 711_1456712ins60 | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 1,456,711 | 1,456,711 |
| nssv14467515 | Remapped | Perfect | NC_000005.9:g.1456 711_1456712ins60 | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 1,456,711 | 1,456,711 |