nsv5668224
- 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: 216 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 216 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5668224 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000022.11 | Chr22 | 44,883,981 | 44,883,981 | ||
| nsv5668224 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000022.10 | Chr22 | 45,279,861 | 45,279,861 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv17121429 | insertion | SAMN00006580 | Sequencing | Sequence alignment | 9,409 |
| nssv17123631 | insertion | HG02011 | Sequencing | Sequence alignment | 2,906 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17121429 | Submitted genomic | NC_000022.11:g.448 83981_44883982ins2 41 | GRCh38 (hg38) | NC_000022.11 | Chr22 | 44,883,981 | 44,883,981 | ||
| nssv17123631 | Submitted genomic | NC_000022.11:g.448 83981_44883982ins6 07 | GRCh38 (hg38) | NC_000022.11 | Chr22 | 44,883,981 | 44,883,981 | ||
| nssv17121429 | Remapped | Perfect | NC_000022.10:g.452 79861_45279862ins2 41 | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 45,279,861 | 45,279,861 |
| nssv17123631 | Remapped | Perfect | NC_000022.10:g.452 79861_45279862ins6 07 | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 45,279,861 | 45,279,861 |