nsv3384361
- Organism: Homo sapiens
- Study:nstd162 (Audano et al. 2019)
- Variant Type:mobile element deletion
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:14
- Validation:Not tested
- Clinical Assertions: No
- Region Size:354
- 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: 256 SVs from 35 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv3384361 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 168,679,095 | 168,679,448 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14732123 | herv deletion | SAMN02744161 | Sequencing | de novo and local sequence assembly | 20,941 |
| nssv14733393 | herv deletion | SAMN04229548 | Sequencing | de novo and local sequence assembly | 23,009 |
| nssv14738962 | herv deletion | SAMN05181962 | Sequencing | de novo and local sequence assembly | 23,563 |
| nssv14740446 | herv deletion | SAMN05603745 | Sequencing | de novo and local sequence assembly | 27,447 |
| nssv14742016 | herv deletion | SAMN05603729 | Sequencing | de novo and local sequence assembly | 24,108 |
| nssv14742740 | herv deletion | SAMN06885952 | Sequencing | de novo and local sequence assembly | 28,070 |
| nssv14742983 | herv deletion | SAMN04229552 | Sequencing | de novo and local sequence assembly | 24,632 |
| nssv14743467 | herv deletion | SAMN09643900 | Sequencing | de novo and local sequence assembly | 26,631 |
| nssv14744471 | herv deletion | SAMN04251426 | Sequencing | de novo and local sequence assembly | 22,074 |
| nssv14746734 | herv deletion | SAMN09651199 | Sequencing | de novo and local sequence assembly | 27,381 |
| nssv14748873 | herv deletion | SAMN03255769 | Sequencing | de novo and local sequence assembly | 21,134 |
| nssv14748902 | herv deletion | SAMN09690649 | Sequencing | de novo and local sequence assembly | 21,495 |
| nssv14749935 | herv deletion | SAMN03838746 | Sequencing | de novo and local sequence assembly | 26,336 |
| nssv14752027 | herv deletion | SAMN05603847 | Sequencing | de novo and local sequence assembly | 26,021 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv14732123 | Submitted genomic | NC_000006.12:g.168 679095_168679448de l | GRCh38 (hg38) | NC_000006.12 | Chr6 | 168,679,095 | 168,679,448 |
| nssv14733393 | Submitted genomic | NC_000006.12:g.168 679095_168679448de l | GRCh38 (hg38) | NC_000006.12 | Chr6 | 168,679,095 | 168,679,448 |
| nssv14738962 | Submitted genomic | NC_000006.12:g.168 679095_168679448de l | GRCh38 (hg38) | NC_000006.12 | Chr6 | 168,679,095 | 168,679,448 |
| nssv14740446 | Submitted genomic | NC_000006.12:g.168 679095_168679448de l | GRCh38 (hg38) | NC_000006.12 | Chr6 | 168,679,095 | 168,679,448 |
| nssv14742016 | Submitted genomic | NC_000006.12:g.168 679095_168679448de l | GRCh38 (hg38) | NC_000006.12 | Chr6 | 168,679,095 | 168,679,448 |
| nssv14742740 | Submitted genomic | NC_000006.12:g.168 679095_168679448de l | GRCh38 (hg38) | NC_000006.12 | Chr6 | 168,679,095 | 168,679,448 |
| nssv14742983 | Submitted genomic | NC_000006.12:g.168 679095_168679448de l | GRCh38 (hg38) | NC_000006.12 | Chr6 | 168,679,095 | 168,679,448 |
| nssv14743467 | Submitted genomic | NC_000006.12:g.168 679095_168679448de l | GRCh38 (hg38) | NC_000006.12 | Chr6 | 168,679,095 | 168,679,448 |
| nssv14744471 | Submitted genomic | NC_000006.12:g.168 679095_168679448de l | GRCh38 (hg38) | NC_000006.12 | Chr6 | 168,679,095 | 168,679,448 |
| nssv14746734 | Submitted genomic | NC_000006.12:g.168 679095_168679448de l | GRCh38 (hg38) | NC_000006.12 | Chr6 | 168,679,095 | 168,679,448 |
| nssv14748873 | Submitted genomic | NC_000006.12:g.168 679095_168679448de l | GRCh38 (hg38) | NC_000006.12 | Chr6 | 168,679,095 | 168,679,448 |
| nssv14748902 | Submitted genomic | NC_000006.12:g.168 679095_168679448de l | GRCh38 (hg38) | NC_000006.12 | Chr6 | 168,679,095 | 168,679,448 |
| nssv14749935 | Submitted genomic | NC_000006.12:g.168 679095_168679448de l | GRCh38 (hg38) | NC_000006.12 | Chr6 | 168,679,095 | 168,679,448 |
| nssv14752027 | Submitted genomic | NC_000006.12:g.168 679095_168679448de l | GRCh38 (hg38) | NC_000006.12 | Chr6 | 168,679,095 | 168,679,448 |