nsv3231462
- Organism: Homo sapiens
- Study:nstd152 (Chaisson et al. 2019)
- Variant Type:mobile element deletion
- Method Type:Optical mapping, Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:59
- Description:Absence of a L1P mobile element insertion that is present in 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: 139 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 139 SVs from 41 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3231462 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 178,178,709 | 178,178,767 | ||
| nsv3231462 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000003.11 | Chr3 | 177,896,497 | 177,896,555 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14409438 | line1 deletion | SAMN00001696 | Optical mapping, Sequencing | Optical mapping, Sequence alignment, de novo and local sequence assembly | 45,591 |
| nssv14435330 | line1 deletion | HG00514 | Optical mapping, Sequencing | Optical mapping, Sequence alignment, de novo and local sequence assembly | 39,861 |
| nssv14467533 | line1 deletion | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv14409438 | Submitted genomic | NC_000003.12:g.178 178709_178178767de l58 | GRCh38 (hg38) | NC_000003.12 | Chr3 | 178,178,709 | 178,178,767 | ||
| nssv14435330 | Submitted genomic | NC_000003.12:g.178 178709_178178767de l58 | GRCh38 (hg38) | NC_000003.12 | Chr3 | 178,178,709 | 178,178,767 | ||
| nssv14467533 | Submitted genomic | NC_000003.12:g.178 178709_178178767de l58 | GRCh38 (hg38) | NC_000003.12 | Chr3 | 178,178,709 | 178,178,767 | ||
| nssv14409438 | Remapped | Perfect | NC_000003.11:g.177 896497_177896555de l58 | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 177,896,497 | 177,896,555 |
| nssv14435330 | Remapped | Perfect | NC_000003.11:g.177 896497_177896555de l58 | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 177,896,497 | 177,896,555 |
| nssv14467533 | Remapped | Perfect | NC_000003.11:g.177 896497_177896555de l58 | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 177,896,497 | 177,896,555 |