nsv3416960
- Organism: Homo sapiens
- Study:nstd162 (Audano et al. 2019)
- Variant Type:mobile element deletion
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:471
- 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: 410 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 410 SVs from 65 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3416960 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 150,037,318 | 150,037,788 | ||
| nsv3416960 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 149,734,407 | 149,734,877 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14734781 | herv deletion | SAMN04229548 | Sequencing | de novo and local sequence assembly | 23,009 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14734781 | Submitted genomic | NC_000007.14:g.150 037318_150037788de l | GRCh38 (hg38) | NC_000007.14 | Chr7 | 150,037,318 | 150,037,788 | ||
| nssv14734781 | Remapped | Perfect | NC_000007.13:g.149 734407_149734877de lNC_000007.13:g.14 9734407_149734877d el | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 149,734,407 | 149,734,877 |