nsv5672478
- Organism: Homo sapiens
- Study:nstd207 (Ebert et al. 2021)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Publication(s):Ebert 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: 111 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 111 SVs from 21 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5672478 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000020.11 | Chr20 | 46,656,268 | 46,656,268 | ||
| nsv5672478 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000020.10 | Chr20 | 45,284,907 | 45,284,907 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv17116695 | insertion | SAMN00006579 | Sequencing | Sequence alignment | 23,265 |
| nssv17116696 | insertion | SAMN00006579 | Sequencing | Sequence alignment | 23,265 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17116695 | Submitted genomic | NC_000020.11:g.466 56268_46656269ins2 65 | GRCh38 (hg38) | NC_000020.11 | Chr20 | 46,656,268 | 46,656,268 | ||
| nssv17116696 | Submitted genomic | NC_000020.11:g.466 56268_46656269ins6 7 | GRCh38 (hg38) | NC_000020.11 | Chr20 | 46,656,268 | 46,656,268 | ||
| nssv17116695 | Remapped | Perfect | NC_000020.10:g.452 84907_45284908ins2 65 | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 45,284,907 | 45,284,907 |
| nssv17116696 | Remapped | Perfect | NC_000020.10:g.452 84907_45284908ins6 7 | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 45,284,907 | 45,284,907 |