nsv3358490
- Organism: Homo sapiens
- Study:nstd162 (Audano et al. 2019)
- Variant Type:mobile element deletion
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1,458
- Description:Absence of a Alu insertion that is present in the reference
- Publication(s):Audano et al. 2019
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: 154 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 152 SVs from 36 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3358490 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 38,807,198 | 38,808,655 | ||
| nsv3358490 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000017.10 | Chr17 | 36,963,451 | 36,964,908 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14553146 | alu deletion | SAMN05603729 | Sequencing | de novo and local sequence assembly | 24,108 |
| nssv14569114 | alu deletion | SAMN05181962 | Sequencing | de novo and local sequence assembly | 23,563 |
| nssv14571717 | alu deletion | SAMN09651199 | Sequencing | de novo and local sequence assembly | 27,381 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14553146 | Submitted genomic | NC_000017.11:g.388 07198_38808655del | GRCh38 (hg38) | NC_000017.11 | Chr17 | 38,807,198 | 38,808,655 | ||
| nssv14569114 | Submitted genomic | NC_000017.11:g.388 07198_38808655del | GRCh38 (hg38) | NC_000017.11 | Chr17 | 38,807,198 | 38,808,655 | ||
| nssv14571717 | Submitted genomic | NC_000017.11:g.388 07198_38808655del | GRCh38 (hg38) | NC_000017.11 | Chr17 | 38,807,198 | 38,808,655 | ||
| nssv14553146 | Remapped | Perfect | NC_000017.10:g.369 63451_36964908delN C_000017.10:g.3696 3451_36964908del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 36,963,451 | 36,964,908 |
| nssv14569114 | Remapped | Perfect | NC_000017.10:g.369 63451_36964908delN C_000017.10:g.3696 3451_36964908del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 36,963,451 | 36,964,908 |
| nssv14571717 | Remapped | Perfect | NC_000017.10:g.369 63451_36964908delN C_000017.10:g.3696 3451_36964908del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 36,963,451 | 36,964,908 |