nsv5702877
- 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: 287 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 287 SVs from 33 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5702877 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000021.9 | Chr21 | 15,842,242 | 15,842,242 | ||
| nsv5702877 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000021.8 | Chr21 | 17,214,561 | 17,214,561 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17203976 | alu insertion | Sequencing | Other |
| nssv17222861 | alu insertion | Sequencing | Other |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17203976 | Submitted genomic | NC_000021.9:g.1584 2242_15842243ins26 7 | GRCh38 (hg38) | NC_000021.9 | Chr21 | 15,842,242 | 15,842,242 | ||
| nssv17222861 | Submitted genomic | NC_000021.9:g.1584 2242_15842243ins26 6 | GRCh38 (hg38) | NC_000021.9 | Chr21 | 15,842,242 | 15,842,242 | ||
| nssv17203976 | Remapped | Perfect | NC_000021.8:g.1721 4561_17214562ins26 7 | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 17,214,561 | 17,214,561 |
| nssv17222861 | Remapped | Perfect | NC_000021.8:g.1721 4561_17214562ins26 6 | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 17,214,561 | 17,214,561 |