nsv5714291
- 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: 115 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 115 SVs from 27 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5714291 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000012.12 | Chr12 | 130,963,742 | 130,963,742 | ||
| nsv5714291 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 131,448,287 | 131,448,287 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17194344 | alu insertion | Sequencing | Other |
| nssv17227917 | alu insertion | Sequencing | Other |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17194344 | Submitted genomic | NC_000012.12:g.130 963742_130963743in s279 | GRCh38 (hg38) | NC_000012.12 | Chr12 | 130,963,742 | 130,963,742 | ||
| nssv17227917 | Submitted genomic | NC_000012.12:g.130 963742_130963743in s279 | GRCh38 (hg38) | NC_000012.12 | Chr12 | 130,963,742 | 130,963,742 | ||
| nssv17194344 | Remapped | Perfect | NC_000012.11:g.131 448287_131448288in s279 | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 131,448,287 | 131,448,287 |
| nssv17227917 | Remapped | Perfect | NC_000012.11:g.131 448287_131448288in s279 | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 131,448,287 | 131,448,287 |