nsv3414047
- 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: 381 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 379 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 9 SVs from 5 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3414047 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 72,682,072 | 72,682,072 | ||
| nsv3414047 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 71,901,922 | 71,901,922 |
| nsv3414047 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004070882.1 | ChrX|NW_00 4070882.1 | 371,089 | 371,089 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14798754 | sva insertion | SAMN09690649 | Sequencing | de novo and local sequence assembly | 21,495 |
| nssv14809485 | sva insertion | SAMN04251426 | Sequencing | de novo and local sequence assembly | 22,074 |
| nssv14809615 | sva insertion | SAMN05603729 | Sequencing | de novo and local sequence assembly | 24,108 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14798754 | Submitted genomic | NC_000023.11:g.726 82072_72682073ins1 74 | GRCh38 (hg38) | NC_000023.11 | ChrX | 72,682,072 | 72,682,072 | ||
| nssv14809485 | Submitted genomic | NC_000023.11:g.726 82072_72682073ins1 74 | GRCh38 (hg38) | NC_000023.11 | ChrX | 72,682,072 | 72,682,072 | ||
| nssv14809615 | Submitted genomic | NC_000023.11:g.726 82072_72682073ins1 74 | GRCh38 (hg38) | NC_000023.11 | ChrX | 72,682,072 | 72,682,072 | ||
| nssv14798754 | Remapped | Perfect | NW_004070882.1:g.3 71089_371090ins174 NW_004070882.1:g.3 71089_371090ins174 | GRCh37.p13 | First Pass | NW_004070882.1 | ChrX|NW_00 4070882.1 | 371,089 | 371,089 |
| nssv14809485 | Remapped | Perfect | NW_004070882.1:g.3 71089_371090ins174 NW_004070882.1:g.3 71089_371090ins174 | GRCh37.p13 | First Pass | NW_004070882.1 | ChrX|NW_00 4070882.1 | 371,089 | 371,089 |
| nssv14809615 | Remapped | Perfect | NW_004070882.1:g.3 71089_371090ins174 NW_004070882.1:g.3 71089_371090ins174 | GRCh37.p13 | First Pass | NW_004070882.1 | ChrX|NW_00 4070882.1 | 371,089 | 371,089 |
| nssv14798754 | Remapped | Perfect | NC_000023.10:g.719 01922_71901923ins1 74NC_000023.10:g.7 1901922_71901923in s174 | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 71,901,922 | 71,901,922 |
| nssv14809485 | Remapped | Perfect | NC_000023.10:g.719 01922_71901923ins1 74NC_000023.10:g.7 1901922_71901923in s174 | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 71,901,922 | 71,901,922 |
| nssv14809615 | Remapped | Perfect | NC_000023.10:g.719 01922_71901923ins1 74NC_000023.10:g.7 1901922_71901923in s174 | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 71,901,922 | 71,901,922 |