nsv3417871
- Organism: Homo sapiens
- Study:nstd162 (Audano et al. 2019)
- Variant Type:mobile element insertion
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:3
- 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: 180 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 180 SVs from 26 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3417871 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000008.11 | Chr8 | 86,067,392 | 86,067,392 | ||
| nsv3417871 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 87,079,621 | 87,079,621 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14777058 | alu insertion | SAMN04229552 | Sequencing | de novo and local sequence assembly | 24,632 |
| nssv14777970 | alu insertion | SAMN05603729 | Sequencing | de novo and local sequence assembly | 24,108 |
| nssv14782192 | alu insertion | SAMN06885952 | Sequencing | de novo and local sequence assembly | 28,070 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14777058 | Submitted genomic | NC_000008.11:g.860 67392_86067393ins3 26 | GRCh38 (hg38) | NC_000008.11 | Chr8 | 86,067,392 | 86,067,392 | ||
| nssv14777970 | Submitted genomic | NC_000008.11:g.860 67392_86067393ins3 26 | GRCh38 (hg38) | NC_000008.11 | Chr8 | 86,067,392 | 86,067,392 | ||
| nssv14782192 | Submitted genomic | NC_000008.11:g.860 67392_86067393ins3 26 | GRCh38 (hg38) | NC_000008.11 | Chr8 | 86,067,392 | 86,067,392 | ||
| nssv14777058 | Remapped | Perfect | NC_000008.10:g.870 79621_87079622ins3 26NC_000008.10:g.8 7079621_87079622in s326 | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 87,079,621 | 87,079,621 |
| nssv14777970 | Remapped | Perfect | NC_000008.10:g.870 79621_87079622ins3 26NC_000008.10:g.8 7079621_87079622in s326 | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 87,079,621 | 87,079,621 |
| nssv14782192 | Remapped | Perfect | NC_000008.10:g.870 79621_87079622ins3 26NC_000008.10:g.8 7079621_87079622in s326 | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 87,079,621 | 87,079,621 |