nsv3214213
- Organism: Homo sapiens
- Study:nstd152 (Chaisson et al. 2019)
- Variant Type:mobile element deletion
- Method Type:Optical mapping, Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:122
- Description:Absence of a HERV mobile element insertion that is present in the reference
- Publication(s):Chaisson 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: 169 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 169 SVs from 46 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3214213 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 21,548,089 | 21,548,210 | ||
| nsv3214213 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 21,587,707 | 21,587,828 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14381292 | herv deletion | SAMN00001696 | Optical mapping, Sequencing | Optical mapping, Sequence alignment, de novo and local sequence assembly | 45,591 |
| nssv14438305 | herv deletion | HG00514 | Optical mapping, Sequencing | Optical mapping, Sequence alignment, de novo and local sequence assembly | 39,861 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14381292 | Submitted genomic | NC_000007.14:g.215 48089_21548210del1 21 | GRCh38 (hg38) | NC_000007.14 | Chr7 | 21,548,089 | 21,548,210 | ||
| nssv14438305 | Submitted genomic | NC_000007.14:g.215 48089_21548210del1 21 | GRCh38 (hg38) | NC_000007.14 | Chr7 | 21,548,089 | 21,548,210 | ||
| nssv14381292 | Remapped | Perfect | NC_000007.13:g.215 87707_21587828del1 21 | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 21,587,707 | 21,587,828 |
| nssv14438305 | Remapped | Perfect | NC_000007.13:g.215 87707_21587828del1 21 | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 21,587,707 | 21,587,828 |