nsv5684243
- 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: 170 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 170 SVs from 30 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5684243 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 43,930,235 | 43,930,235 | ||
| nsv5684243 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 44,157,374 | 44,157,374 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17202751 | alu insertion | Sequencing | Other |
| nssv17207901 | alu insertion | Sequencing | Other |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17202751 | Submitted genomic | NC_000002.12:g.439 30235_43930236ins2 80 | GRCh38 (hg38) | NC_000002.12 | Chr2 | 43,930,235 | 43,930,235 | ||
| nssv17207901 | Submitted genomic | NC_000002.12:g.439 30235_43930236ins2 78 | GRCh38 (hg38) | NC_000002.12 | Chr2 | 43,930,235 | 43,930,235 | ||
| nssv17202751 | Remapped | Perfect | NC_000002.11:g.441 57374_44157375ins2 80 | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 44,157,374 | 44,157,374 |
| nssv17207901 | Remapped | Perfect | NC_000002.11:g.441 57374_44157375ins2 78 | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 44,157,374 | 44,157,374 |