nsv3401871
- 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:390
- 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: 381 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 381 SVs from 62 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3401871 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 150,038,764 | 150,039,153 | ||
| nsv3401871 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 149,735,853 | 149,736,242 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14743112 | herv deletion | SAMN09643900 | Sequencing | de novo and local sequence assembly | 26,631 |
| nssv14751360 | herv deletion | SAMN04229552 | Sequencing | de novo and local sequence assembly | 24,632 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14743112 | Submitted genomic | NC_000007.14:g.150 038764_150039153de l | GRCh38 (hg38) | NC_000007.14 | Chr7 | 150,038,764 | 150,039,153 | ||
| nssv14751360 | Submitted genomic | NC_000007.14:g.150 038764_150039153de l | GRCh38 (hg38) | NC_000007.14 | Chr7 | 150,038,764 | 150,039,153 | ||
| nssv14743112 | Remapped | Perfect | NC_000007.13:g.149 735853_149736242de lNC_000007.13:g.14 9735853_149736242d el | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 149,735,853 | 149,736,242 |
| nssv14751360 | Remapped | Perfect | NC_000007.13:g.149 735853_149736242de lNC_000007.13:g.14 9735853_149736242d el | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 149,735,853 | 149,736,242 |