nsv3418817
- Organism: Homo sapiens
- Study:nstd162 (Audano et al. 2019)
- Variant Type:mobile element insertion
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:1
- 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3418817 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 72,682,206 | 72,682,206 | ||
| nsv3418817 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 71,902,056 | 71,902,056 |
| nsv3418817 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004070882.1 | ChrX|NW_00 4070882.1 | 371,223 | 371,223 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14805626 | sva insertion | SAMN05603847 | Sequencing | de novo and local sequence assembly | 26,021 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14805626 | Submitted genomic | NC_000023.11:g.726 82206_72682207ins1 73 | GRCh38 (hg38) | NC_000023.11 | ChrX | 72,682,206 | 72,682,206 | ||
| nssv14805626 | Remapped | Perfect | NW_004070882.1:g.3 71223_371224ins173 NW_004070882.1:g.3 71223_371224ins173 | GRCh37.p13 | First Pass | NW_004070882.1 | ChrX|NW_00 4070882.1 | 371,223 | 371,223 |
| nssv14805626 | Remapped | Perfect | NC_000023.10:g.719 02056_71902057ins1 73NC_000023.10:g.7 1902056_71902057in s173 | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 71,902,056 | 71,902,056 |