nsv5684415
- 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 Alu 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: 140 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 142 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 11 SVs from 8 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5684415 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 206,069,713 | 206,069,713 | ||
| nsv5684415 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000001.10 | Chr1 | 206,271,619 | 206,271,619 |
| nsv5684415 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871057.1 | Chr1|NW_00 3871057.1 | 60,567 | 60,567 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17187975 | alu insertion | Sequencing | Other |
| nssv17206765 | alu insertion | Sequencing | Other |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17187975 | Submitted genomic | NC_000001.11:g.206 069713_206069714in s281 | GRCh38 (hg38) | NC_000001.11 | Chr1 | 206,069,713 | 206,069,713 | ||
| nssv17206765 | Submitted genomic | NC_000001.11:g.206 069713_206069714in s281 | GRCh38 (hg38) | NC_000001.11 | Chr1 | 206,069,713 | 206,069,713 | ||
| nssv17187975 | Remapped | Perfect | NW_003871057.1:g.6 0567_60568ins281 | GRCh37.p13 | First Pass | NW_003871057.1 | Chr1|NW_00 3871057.1 | 60,567 | 60,567 |
| nssv17206765 | Remapped | Perfect | NW_003871057.1:g.6 0567_60568ins281 | GRCh37.p13 | First Pass | NW_003871057.1 | Chr1|NW_00 3871057.1 | 60,567 | 60,567 |
| nssv17187975 | Remapped | Perfect | NC_000001.10:g.206 271619_206271620in s281 | GRCh37.p13 | Second Pass | NC_000001.10 | Chr1 | 206,271,619 | 206,271,619 |
| nssv17206765 | Remapped | Perfect | NC_000001.10:g.206 271619_206271620in s281 | GRCh37.p13 | Second Pass | NC_000001.10 | Chr1 | 206,271,619 | 206,271,619 |