nsv3379056
- Organism: Homo sapiens
- Study:nstd162 (Audano et al. 2019)
- Variant Type:mobile element deletion
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:6,075
- 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: 141 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 141 SVs from 40 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3379056 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 70,010,329 | 70,016,403 | ||
| nsv3379056 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 70,720,221 | 70,726,295 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14775131 | line1 deletion | SAMN04251426 | Sequencing | de novo and local sequence assembly | 22,074 |
| nssv14776258 | line1 deletion | SAMN09643900 | Sequencing | de novo and local sequence assembly | 26,631 |
| nssv14777156 | line1 deletion | SAMN05603729 | Sequencing | de novo and local sequence assembly | 24,108 |
| nssv14791152 | line1 deletion | SAMN09690649 | Sequencing | de novo and local sequence assembly | 21,495 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14775131 | Submitted genomic | NC_000006.12:g.700 10329_70016403del | GRCh38 (hg38) | NC_000006.12 | Chr6 | 70,010,329 | 70,016,403 | ||
| nssv14776258 | Submitted genomic | NC_000006.12:g.700 10329_70016403del | GRCh38 (hg38) | NC_000006.12 | Chr6 | 70,010,329 | 70,016,403 | ||
| nssv14777156 | Submitted genomic | NC_000006.12:g.700 10329_70016403del | GRCh38 (hg38) | NC_000006.12 | Chr6 | 70,010,329 | 70,016,403 | ||
| nssv14791152 | Submitted genomic | NC_000006.12:g.700 10329_70016403del | GRCh38 (hg38) | NC_000006.12 | Chr6 | 70,010,329 | 70,016,403 | ||
| nssv14775131 | Remapped | Perfect | NC_000006.11:g.707 20221_70726295delN C_000006.11:g.7072 0221_70726295del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 70,720,221 | 70,726,295 |
| nssv14776258 | Remapped | Perfect | NC_000006.11:g.707 20221_70726295delN C_000006.11:g.7072 0221_70726295del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 70,720,221 | 70,726,295 |
| nssv14777156 | Remapped | Perfect | NC_000006.11:g.707 20221_70726295delN C_000006.11:g.7072 0221_70726295del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 70,720,221 | 70,726,295 |
| nssv14791152 | Remapped | Perfect | NC_000006.11:g.707 20221_70726295delN C_000006.11:g.7072 0221_70726295del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 70,720,221 | 70,726,295 |