nsv5699622
- 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: 266 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 261 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 142 SVs from 24 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5699622 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 20,198,946 | 20,198,946 | ||
| nsv5699622 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000019.9 | Chr19 | 20,309,755 | 20,309,755 |
| nsv5699622 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003571053.2 | Chr19|NW_0 03571053.2 | 116,199 | 116,199 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17199832 | alu insertion | Sequencing | Other |
| nssv17221305 | alu insertion | Sequencing | Other |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17199832 | Submitted genomic | NC_000019.10:g.201 98946_20198947ins2 81 | GRCh38 (hg38) | NC_000019.10 | Chr19 | 20,198,946 | 20,198,946 | ||
| nssv17221305 | Submitted genomic | NC_000019.10:g.201 98946_20198947ins2 81 | GRCh38 (hg38) | NC_000019.10 | Chr19 | 20,198,946 | 20,198,946 | ||
| nssv17199832 | Remapped | Perfect | NW_003571053.2:g.1 16199_116200ins281 | GRCh37.p13 | First Pass | NW_003571053.2 | Chr19|NW_0 03571053.2 | 116,199 | 116,199 |
| nssv17221305 | Remapped | Perfect | NW_003571053.2:g.1 16199_116200ins281 | GRCh37.p13 | First Pass | NW_003571053.2 | Chr19|NW_0 03571053.2 | 116,199 | 116,199 |
| nssv17199832 | Remapped | Perfect | NC_000019.9:g.2030 9755_20309756ins28 1 | GRCh37.p13 | Second Pass | NC_000019.9 | Chr19 | 20,309,755 | 20,309,755 |
| nssv17221305 | Remapped | Perfect | NC_000019.9:g.2030 9755_20309756ins28 1 | GRCh37.p13 | Second Pass | NC_000019.9 | Chr19 | 20,309,755 | 20,309,755 |