nsv3380871
- Organism: Homo sapiens
- Study:nstd162 (Audano et al. 2019)
- Variant Type:mobile element deletion
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:752
- Description:Absence of a HERV 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: 233 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 233 SVs from 50 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3380871 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000004.12 | Chr4 | 92,439,608 | 92,440,359 | ||
| nsv3380871 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 93,360,759 | 93,361,510 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14733455 | herv deletion | SAMN05603847 | Sequencing | de novo and local sequence assembly | 26,021 |
| nssv14750261 | herv deletion | SAMN03255769 | Sequencing | de novo and local sequence assembly | 21,134 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14733455 | Submitted genomic | NC_000004.12:g.924 39608_92440359del | GRCh38 (hg38) | NC_000004.12 | Chr4 | 92,439,608 | 92,440,359 | ||
| nssv14750261 | Submitted genomic | NC_000004.12:g.924 39608_92440359del | GRCh38 (hg38) | NC_000004.12 | Chr4 | 92,439,608 | 92,440,359 | ||
| nssv14733455 | Remapped | Perfect | NC_000004.11:g.933 60759_93361510delN C_000004.11:g.9336 0759_93361510del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 93,360,759 | 93,361,510 |
| nssv14750261 | Remapped | Perfect | NC_000004.11:g.933 60759_93361510delN C_000004.11:g.9336 0759_93361510del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 93,360,759 | 93,361,510 |