nsv3385789
- Organism: Homo sapiens
- Study:nstd162 (Audano et al. 2019)
- Variant Type:mobile element deletion
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:5
- Validation:Not tested
- Clinical Assertions: No
- Region Size:428
- 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: 191 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 191 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3385789 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 5,898,216 | 5,898,643 | ||
| nsv3385789 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 5,898,449 | 5,898,876 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14736895 | herv deletion | SAMN09651199 | Sequencing | de novo and local sequence assembly | 27,381 |
| nssv14738701 | herv deletion | SAMN03838746 | Sequencing | de novo and local sequence assembly | 26,336 |
| nssv14739913 | herv deletion | SAMN05181962 | Sequencing | de novo and local sequence assembly | 23,563 |
| nssv14748154 | herv deletion | SAMN04229552 | Sequencing | de novo and local sequence assembly | 24,632 |
| nssv14749766 | herv deletion | SAMN05603729 | Sequencing | de novo and local sequence assembly | 24,108 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14736895 | Submitted genomic | NC_000006.12:g.589 8216_5898643del | GRCh38 (hg38) | NC_000006.12 | Chr6 | 5,898,216 | 5,898,643 | ||
| nssv14738701 | Submitted genomic | NC_000006.12:g.589 8216_5898643del | GRCh38 (hg38) | NC_000006.12 | Chr6 | 5,898,216 | 5,898,643 | ||
| nssv14739913 | Submitted genomic | NC_000006.12:g.589 8216_5898643del | GRCh38 (hg38) | NC_000006.12 | Chr6 | 5,898,216 | 5,898,643 | ||
| nssv14748154 | Submitted genomic | NC_000006.12:g.589 8216_5898643del | GRCh38 (hg38) | NC_000006.12 | Chr6 | 5,898,216 | 5,898,643 | ||
| nssv14749766 | Submitted genomic | NC_000006.12:g.589 8216_5898643del | GRCh38 (hg38) | NC_000006.12 | Chr6 | 5,898,216 | 5,898,643 | ||
| nssv14736895 | Remapped | Perfect | NC_000006.11:g.589 8449_5898876delNC_ 000006.11:g.589844 9_5898876del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 5,898,449 | 5,898,876 |
| nssv14738701 | Remapped | Perfect | NC_000006.11:g.589 8449_5898876delNC_ 000006.11:g.589844 9_5898876del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 5,898,449 | 5,898,876 |
| nssv14739913 | Remapped | Perfect | NC_000006.11:g.589 8449_5898876delNC_ 000006.11:g.589844 9_5898876del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 5,898,449 | 5,898,876 |
| nssv14748154 | Remapped | Perfect | NC_000006.11:g.589 8449_5898876delNC_ 000006.11:g.589844 9_5898876del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 5,898,449 | 5,898,876 |
| nssv14749766 | Remapped | Perfect | NC_000006.11:g.589 8449_5898876delNC_ 000006.11:g.589844 9_5898876del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 5,898,449 | 5,898,876 |