nsv5670287
- 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: 191 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 191 SVs from 22 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5670287 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000022.11 | Chr22 | 44,302,613 | 44,302,613 | ||
| nsv5670287 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000022.10 | Chr22 | 44,698,493 | 44,698,493 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv17124869 | insertion | SAMN00006579 | Sequencing | Sequence alignment | 23,265 |
| nssv17136399 | insertion | HG00512 | Sequencing | Sequence alignment | 6,637 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17124869 | Submitted genomic | NC_000022.11:g.443 02613_44302614ins4 81 | GRCh38 (hg38) | NC_000022.11 | Chr22 | 44,302,613 | 44,302,613 | ||
| nssv17136399 | Submitted genomic | NC_000022.11:g.443 02613_44302614ins1 61 | GRCh38 (hg38) | NC_000022.11 | Chr22 | 44,302,613 | 44,302,613 | ||
| nssv17124869 | Remapped | Perfect | NC_000022.10:g.446 98493_44698494ins4 81 | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 44,698,493 | 44,698,493 |
| nssv17136399 | Remapped | Perfect | NC_000022.10:g.446 98493_44698494ins1 61 | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 44,698,493 | 44,698,493 |