nsv5699608
- 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: 104 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 104 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5699608 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000012.12 | Chr12 | 113,223,452 | 113,223,452 | ||
| nsv5699608 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 113,661,257 | 113,661,257 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17193388 | alu insertion | Sequencing | Other |
| nssv17220373 | alu insertion | Sequencing | Other |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17193388 | Submitted genomic | NC_000012.12:g.113 223452_113223453in s279 | GRCh38 (hg38) | NC_000012.12 | Chr12 | 113,223,452 | 113,223,452 | ||
| nssv17220373 | Submitted genomic | NC_000012.12:g.113 223452_113223453in s279 | GRCh38 (hg38) | NC_000012.12 | Chr12 | 113,223,452 | 113,223,452 | ||
| nssv17193388 | Remapped | Perfect | NC_000012.11:g.113 661257_113661258in s279 | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 113,661,257 | 113,661,257 |
| nssv17220373 | Remapped | Perfect | NC_000012.11:g.113 661257_113661258in s279 | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 113,661,257 | 113,661,257 |