nsv3408542
- Organism: Homo sapiens
- Study:nstd162 (Audano et al. 2019)
- Variant Type:mobile element deletion
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:6,082
- Description:Absence of a L1 insertion that is present in the reference
- Publication(s):Audano 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: 231 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 231 SVs from 29 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3408542 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000008.11 | Chr8 | 123,859,927 | 123,866,008 | ||
| nsv3408542 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 124,872,167 | 124,878,248 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14809478 | line1 deletion | SAMN05603745 | Sequencing | de novo and local sequence assembly | 27,447 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14809478 | Submitted genomic | NC_000008.11:g.123 859927_123866008de l | GRCh38 (hg38) | NC_000008.11 | Chr8 | 123,859,927 | 123,866,008 | ||
| nssv14809478 | Remapped | Perfect | NC_000008.10:g.124 872167_124878248de lNC_000008.10:g.12 4872167_124878248d el | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 124,872,167 | 124,878,248 |