nsv3414094
- 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: 141 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 141 SVs from 27 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3414094 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000008.11 | Chr8 | 68,758,758 | 68,758,758 | ||
| nsv3414094 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 69,670,993 | 69,670,993 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14763475 | sva insertion | SAMN05603847 | Sequencing | de novo and local sequence assembly | 26,021 |
| nssv14769248 | sva insertion | SAMN04229552 | Sequencing | de novo and local sequence assembly | 24,632 |
| nssv14771536 | sva insertion | SAMN04229548 | Sequencing | de novo and local sequence assembly | 23,009 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14763475 | Submitted genomic | NC_000008.11:g.687 58758_68758759ins2 605 | GRCh38 (hg38) | NC_000008.11 | Chr8 | 68,758,758 | 68,758,758 | ||
| nssv14769248 | Submitted genomic | NC_000008.11:g.687 58758_68758759ins2 605 | GRCh38 (hg38) | NC_000008.11 | Chr8 | 68,758,758 | 68,758,758 | ||
| nssv14771536 | Submitted genomic | NC_000008.11:g.687 58758_68758759ins2 605 | GRCh38 (hg38) | NC_000008.11 | Chr8 | 68,758,758 | 68,758,758 | ||
| nssv14763475 | Remapped | Perfect | NC_000008.10:g.696 70993_69670994ins2 605NC_000008.10:g. 69670993_69670994i ns2605 | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 69,670,993 | 69,670,993 |
| nssv14769248 | Remapped | Perfect | NC_000008.10:g.696 70993_69670994ins2 605NC_000008.10:g. 69670993_69670994i ns2605 | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 69,670,993 | 69,670,993 |
| nssv14771536 | Remapped | Perfect | NC_000008.10:g.696 70993_69670994ins2 605NC_000008.10:g. 69670993_69670994i ns2605 | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 69,670,993 | 69,670,993 |