nsv3531814
- Organism: Homo sapiens
- Study:nstd152 (Chaisson et al. 2019)
- Variant Type:mobile element insertion
- Method Type:Optical mapping, Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Description:Insertion of a HERV mobile element relative to 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: 250 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 250 SVs from 45 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3531814 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000014.9 | Chr14 | 44,417,493 | 44,417,493 | ||
| nsv3531814 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000014.8 | Chr14 | 44,886,696 | 44,886,696 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14390079 | herv insertion | SAMN00001696 | Optical mapping, Sequencing | Optical mapping, Sequence alignment, de novo and local sequence assembly | 45,591 |
| nssv14417937 | herv insertion | HG00514 | Optical mapping, Sequencing | Optical mapping, Sequence alignment, de novo and local sequence assembly | 39,861 |
| nssv14445409 | herv insertion | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv14390079 | Submitted genomic | NC_000014.9:g.4441 7493_44417494ins51 1 | GRCh38 (hg38) | NC_000014.9 | Chr14 | 44,417,493 | 44,417,493 | ||
| nssv14417937 | Submitted genomic | NC_000014.9:g.4441 7493_44417494ins51 1 | GRCh38 (hg38) | NC_000014.9 | Chr14 | 44,417,493 | 44,417,493 | ||
| nssv14445409 | Submitted genomic | NC_000014.9:g.4441 7493_44417494ins51 0 | GRCh38 (hg38) | NC_000014.9 | Chr14 | 44,417,493 | 44,417,493 | ||
| nssv14390079 | Remapped | Perfect | NC_000014.8:g.4488 6696_44886697ins51 1 | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 44,886,696 | 44,886,696 |
| nssv14417937 | Remapped | Perfect | NC_000014.8:g.4488 6696_44886697ins51 1 | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 44,886,696 | 44,886,696 |
| nssv14445409 | Remapped | Perfect | NC_000014.8:g.4488 6696_44886697ins51 0 | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 44,886,696 | 44,886,696 |