nsv5980323
- Organism: Homo sapiens
- Study:nstd209 (Almarri et al. 2020)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Publication(s):Almarri et al. 2020
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: 106 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 43 SVs from 26 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5980323 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000021.9 | Chr21 | 9,997,181 | 9,997,181 | ||
| nsv5980323 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000021.8 | Chr21 | 10,475,209 | 10,475,209 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17397729 | insertion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17397729 | Submitted genomic | NC_000021.9:g.9997 181_9997182ins120 | GRCh38 (hg38) | NC_000021.9 | Chr21 | 9,997,181 | 9,997,181 | ||
| nssv17397729 | Remapped | Perfect | NC_000021.8:g.1047 5209_10475210ins12 0 | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 10,475,209 | 10,475,209 |