nsv3217991
- 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:53
- 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: 322 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 323 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3217991 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000021.9 | Chr21 | 42,920,028 | 42,920,080 | ||
| nsv3217991 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000021.8 | Chr21 | 44,340,138 | 44,340,190 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14407945 | herv deletion | SAMN00001696 | Optical mapping, Sequencing | Optical mapping, Sequence alignment, de novo and local sequence assembly | 45,591 |
| nssv14466872 | herv deletion | SAMN00006581 | Optical mapping, Sequencing | Optical mapping, Sequence alignment, de novo and local sequence assembly | 41,185 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14407945 | Submitted genomic | NC_000021.9:g.4292 0028_42920080del52 | GRCh38 (hg38) | NC_000021.9 | Chr21 | 42,920,028 | 42,920,080 | ||
| nssv14466872 | Submitted genomic | NC_000021.9:g.4292 0028_42920080del52 | GRCh38 (hg38) | NC_000021.9 | Chr21 | 42,920,028 | 42,920,080 | ||
| nssv14407945 | Remapped | Perfect | NC_000021.8:g.4434 0138_44340190del52 | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 44,340,138 | 44,340,190 |
| nssv14466872 | Remapped | Perfect | NC_000021.8:g.4434 0138_44340190del52 | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 44,340,138 | 44,340,190 |