nsv5696650
- 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: 159 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 159 SVs from 34 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5696650 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 56,512,210 | 56,512,210 | ||
| nsv5696650 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000019.9 | Chr19 | 57,023,579 | 57,023,579 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17203059 | alu insertion | Sequencing | Other |
| nssv17217297 | alu insertion | Sequencing | Other |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17203059 | Submitted genomic | NC_000019.10:g.565 12210_56512211ins2 81 | GRCh38 (hg38) | NC_000019.10 | Chr19 | 56,512,210 | 56,512,210 | ||
| nssv17217297 | Submitted genomic | NC_000019.10:g.565 12210_56512211ins2 81 | GRCh38 (hg38) | NC_000019.10 | Chr19 | 56,512,210 | 56,512,210 | ||
| nssv17203059 | Remapped | Perfect | NC_000019.9:g.5702 3579_57023580ins28 1 | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 57,023,579 | 57,023,579 |
| nssv17217297 | Remapped | Perfect | NC_000019.9:g.5702 3579_57023580ins28 1 | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 57,023,579 | 57,023,579 |