nsv3395626
- 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:2,606
- Description:Absence of a SVA 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: 205 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 205 SVs from 49 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3395626 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 125,387,605 | 125,390,210 | ||
| nsv3395626 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 125,708,751 | 125,711,356 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14812659 | sva deletion | SAMN04229552 | Sequencing | de novo and local sequence assembly | 24,632 |
| nssv14813717 | sva deletion | SAMN05603745 | Sequencing | de novo and local sequence assembly | 27,447 |
| nssv14814526 | sva deletion | SAMN03838746 | Sequencing | de novo and local sequence assembly | 26,336 |
| nssv14814776 | sva deletion | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv14812659 | Submitted genomic | NC_000006.12:g.125 387605_125390210de l | GRCh38 (hg38) | NC_000006.12 | Chr6 | 125,387,605 | 125,390,210 | ||
| nssv14813717 | Submitted genomic | NC_000006.12:g.125 387605_125390210de l | GRCh38 (hg38) | NC_000006.12 | Chr6 | 125,387,605 | 125,390,210 | ||
| nssv14814526 | Submitted genomic | NC_000006.12:g.125 387605_125390210de l | GRCh38 (hg38) | NC_000006.12 | Chr6 | 125,387,605 | 125,390,210 | ||
| nssv14814776 | Submitted genomic | NC_000006.12:g.125 387605_125390210de l | GRCh38 (hg38) | NC_000006.12 | Chr6 | 125,387,605 | 125,390,210 | ||
| nssv14812659 | Remapped | Perfect | NC_000006.11:g.125 708751_125711356de lNC_000006.11:g.12 5708751_125711356d el | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 125,708,751 | 125,711,356 |
| nssv14813717 | Remapped | Perfect | NC_000006.11:g.125 708751_125711356de lNC_000006.11:g.12 5708751_125711356d el | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 125,708,751 | 125,711,356 |
| nssv14814526 | Remapped | Perfect | NC_000006.11:g.125 708751_125711356de lNC_000006.11:g.12 5708751_125711356d el | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 125,708,751 | 125,711,356 |
| nssv14814776 | Remapped | Perfect | NC_000006.11:g.125 708751_125711356de lNC_000006.11:g.12 5708751_125711356d el | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 125,708,751 | 125,711,356 |