nsv3325830
- Organism: Homo sapiens
- Study:nstd162 (Audano et al. 2019)
- Variant Type:mobile element deletion
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:6,094
- Description:Absence of a L1 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: 187 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 187 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3325830 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 65,558,491 | 65,564,584 | ||
| nsv3325830 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 66,024,174 | 66,030,267 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14744407 | line1 deletion | SAMN09690649 | Sequencing | de novo and local sequence assembly | 21,495 |
| nssv14749018 | line1 deletion | SAMN05181962 | Sequencing | de novo and local sequence assembly | 23,563 |
| nssv14750427 | line1 deletion | SAMN09643900 | Sequencing | de novo and local sequence assembly | 26,631 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14744407 | Submitted genomic | NC_000001.11:g.655 58491_65564584del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 65,558,491 | 65,564,584 | ||
| nssv14749018 | Submitted genomic | NC_000001.11:g.655 58491_65564584del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 65,558,491 | 65,564,584 | ||
| nssv14750427 | Submitted genomic | NC_000001.11:g.655 58491_65564584del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 65,558,491 | 65,564,584 | ||
| nssv14744407 | Remapped | Perfect | NC_000001.10:g.660 24174_66030267delN C_000001.10:g.6602 4174_66030267del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 66,024,174 | 66,030,267 |
| nssv14749018 | Remapped | Perfect | NC_000001.10:g.660 24174_66030267delN C_000001.10:g.6602 4174_66030267del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 66,024,174 | 66,030,267 |
| nssv14750427 | Remapped | Perfect | NC_000001.10:g.660 24174_66030267delN C_000001.10:g.6602 4174_66030267del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 66,024,174 | 66,030,267 |