nsv3379412
- Organism: Homo sapiens
- Study:nstd162 (Audano et al. 2019)
- Variant Type:mobile element insertion
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- 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: 379 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 379 SVs from 43 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3379412 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000004.12 | Chr4 | 4,005,089 | 4,005,089 | ||
| nsv3379412 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 4,006,816 | 4,006,816 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14681533 | herv insertion | SAMN09651199 | Sequencing | de novo and local sequence assembly | 27,381 |
| nssv14686272 | herv insertion | SAMN04251426 | Sequencing | de novo and local sequence assembly | 22,074 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14681533 | Submitted genomic | NC_000004.12:g.400 5089_4005090ins84 | GRCh38 (hg38) | NC_000004.12 | Chr4 | 4,005,089 | 4,005,089 | ||
| nssv14686272 | Submitted genomic | NC_000004.12:g.400 5089_4005090ins84 | GRCh38 (hg38) | NC_000004.12 | Chr4 | 4,005,089 | 4,005,089 | ||
| nssv14681533 | Remapped | Perfect | NC_000004.11:g.400 6816_4006817ins84N C_000004.11:g.4006 816_4006817ins84 | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 4,006,816 | 4,006,816 |
| nssv14686272 | Remapped | Perfect | NC_000004.11:g.400 6816_4006817ins84N C_000004.11:g.4006 816_4006817ins84 | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 4,006,816 | 4,006,816 |