nsv5722785
- Organism: Homo sapiens
- Study:nstd211 (Chuang et al. 2021)
- Variant Type:mobile element insertion
- Method Type:Sequencing
- Submitted on:GRCh38
- 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):Chuang et al. 2021
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: 114 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 114 SVs from 23 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5722785 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000020.11 | Chr20 | 45,044,971 | 45,044,971 | ||
| nsv5722785 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000020.10 | Chr20 | 43,673,612 | 43,673,612 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17235764 | line1 insertion | Sequencing | Other |
| nssv17242555 | line1 insertion | Sequencing | Other |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17235764 | Submitted genomic | NC_000020.11:g.450 44971_45044972ins1 508 | GRCh38 (hg38) | NC_000020.11 | Chr20 | 45,044,971 | 45,044,971 | ||
| nssv17242555 | Submitted genomic | NC_000020.11:g.450 44971_45044972ins1 508 | GRCh38 (hg38) | NC_000020.11 | Chr20 | 45,044,971 | 45,044,971 | ||
| nssv17235764 | Remapped | Perfect | NC_000020.10:g.436 73612_43673613ins1 508 | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 43,673,612 | 43,673,612 |
| nssv17242555 | Remapped | Perfect | NC_000020.10:g.436 73612_43673613ins1 508 | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 43,673,612 | 43,673,612 |