nsv5688633
- 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: 172 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 172 SVs from 26 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5688633 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 197,547,104 | 197,547,104 | ||
| nsv5688633 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 198,411,828 | 198,411,828 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17209233 | alu insertion | Sequencing | Other |
| nssv17221678 | alu insertion | Sequencing | Other |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17209233 | Submitted genomic | NC_000002.12:g.197 547104_197547105in s279 | GRCh38 (hg38) | NC_000002.12 | Chr2 | 197,547,104 | 197,547,104 | ||
| nssv17221678 | Submitted genomic | NC_000002.12:g.197 547104_197547105in s280 | GRCh38 (hg38) | NC_000002.12 | Chr2 | 197,547,104 | 197,547,104 | ||
| nssv17209233 | Remapped | Perfect | NC_000002.11:g.198 411828_198411829in s279 | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 198,411,828 | 198,411,828 |
| nssv17221678 | Remapped | Perfect | NC_000002.11:g.198 411828_198411829in s280 | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 198,411,828 | 198,411,828 |