nsv5692056
- 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 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: 902 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 712 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 256 SVs from 38 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5692056 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 145,779,166 | 145,779,166 | ||
| nsv5692056 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000001.10 | Chr1 | 145,655,913 | 145,655,913 |
| nsv5692056 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 2,594,579 | 2,594,579 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17179918 | alu insertion | Sequencing | Other |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17179918 | Submitted genomic | NC_000001.11:g.145 779166_145779167in s278 | GRCh38 (hg38) | NC_000001.11 | Chr1 | 145,779,166 | 145,779,166 | ||
| nssv17179918 | Remapped | Perfect | NW_003871055.3:g.2 594579_2594580ins2 78 | GRCh37.p13 | First Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 2,594,579 | 2,594,579 |
| nssv17179918 | Remapped | Perfect | NC_000001.10:g.145 655913_145655914in s278 | GRCh37.p13 | Second Pass | NC_000001.10 | Chr1 | 145,655,913 | 145,655,913 |