nsv5711367
- 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: 173 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 151 SVs from 39 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5711367 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000020.11 | Chr20 | 29,550,453 | 29,550,453 | ||
nsv5711367 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000020.10 | Chr20 | 29,568,635 | 29,568,635 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv17202507 | alu insertion | Sequencing | Other |
nssv17227269 | alu insertion | Sequencing | Other |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17202507 | Submitted genomic | NC_000020.11:g.295 50453_29550454ins1 32 | GRCh38 (hg38) | NC_000020.11 | Chr20 | 29,550,453 | 29,550,453 | ||
nssv17227269 | Submitted genomic | NC_000020.11:g.295 50453_29550454ins1 31 | GRCh38 (hg38) | NC_000020.11 | Chr20 | 29,550,453 | 29,550,453 | ||
nssv17202507 | Remapped | Perfect | NC_000020.10:g.295 68635_29568636ins1 32 | GRCh37.p13 | Second Pass | NC_000020.10 | Chr20 | 29,568,635 | 29,568,635 |
nssv17227269 | Remapped | Perfect | NC_000020.10:g.295 68635_29568636ins1 31 | GRCh37.p13 | Second Pass | NC_000020.10 | Chr20 | 29,568,635 | 29,568,635 |