nsv5672515
- 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: 381 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 381 SVs from 35 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5672515 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000021.9 | Chr21 | 46,423,741 | 46,423,741 | ||
| nsv5672515 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000021.8 | Chr21 | 47,843,655 | 47,843,655 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv17127681 | insertion | HG03065 | Sequencing | Sequence alignment | 3,836 |
| nssv17133225 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv17127681 | Submitted genomic | NC_000021.9:g.4642 3741_46423742ins15 5 | GRCh38 (hg38) | NC_000021.9 | Chr21 | 46,423,741 | 46,423,741 | ||
| nssv17133225 | Submitted genomic | NC_000021.9:g.4642 3741_46423742ins77 | GRCh38 (hg38) | NC_000021.9 | Chr21 | 46,423,741 | 46,423,741 | ||
| nssv17127681 | Remapped | Perfect | NC_000021.8:g.4784 3655_47843656ins15 5 | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 47,843,655 | 47,843,655 |
| nssv17133225 | Remapped | Perfect | NC_000021.8:g.4784 3655_47843656ins77 | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 47,843,655 | 47,843,655 |