nsv5701348
- 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: 292 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 35 SVs from 9 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5701348 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 54,250,292 | 54,250,292 | ||
| nsv5701348 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004166865.1 | Chr19|NW_0 04166865.1 | 224,659 | 224,659 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17201445 | alu insertion | Sequencing | Other |
| nssv17214784 | alu insertion | Sequencing | Other |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17201445 | Submitted genomic | NC_000019.10:g.542 50292_54250293ins2 81 | GRCh38 (hg38) | NC_000019.10 | Chr19 | 54,250,292 | 54,250,292 | ||
| nssv17214784 | Submitted genomic | NC_000019.10:g.542 50292_54250293ins2 81 | GRCh38 (hg38) | NC_000019.10 | Chr19 | 54,250,292 | 54,250,292 | ||
| nssv17201445 | Remapped | Perfect | NW_004166865.1:g.2 24659_224660ins281 | GRCh37.p13 | First Pass | NW_004166865.1 | Chr19|NW_0 04166865.1 | 224,659 | 224,659 |
| nssv17214784 | Remapped | Perfect | NW_004166865.1:g.2 24659_224660ins281 | GRCh37.p13 | First Pass | NW_004166865.1 | Chr19|NW_0 04166865.1 | 224,659 | 224,659 |