nsv5702481
- Organism: Homo sapiens
- Study:nstd211 (Chuang et al. 2021)
- Variant Type:mobile element insertion
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Description:Insertion of a HERV 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: 1010 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 1006 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 41 SVs from 11 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5702481 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 987,498 | 987,498 | ||
| nsv5702481 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 948,233 | 948,233 |
| nsv5702481 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003571064.2 | ChrX|NW_00 3571064.2 | 144,356 | 144,356 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17233192 | herv insertion | Sequencing | Other |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17233192 | Submitted genomic | NC_000023.11:g.987 498_987499ins8221 | GRCh38 (hg38) | NC_000023.11 | ChrX | 987,498 | 987,498 | ||
| nssv17233192 | Remapped | Perfect | NW_003571064.2:g.1 44356_144357ins822 1 | GRCh37.p13 | First Pass | NW_003571064.2 | ChrX|NW_00 3571064.2 | 144,356 | 144,356 |
| nssv17233192 | Remapped | Perfect | NC_000023.10:g.948 233_948234ins8221 | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 948,233 | 948,233 |