nsv3412758
- 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: 370 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 370 SVs from 28 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3412758 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 70,350,010 | 70,350,010 | ||
| nsv3412758 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000023.10 | ChrX | 69,569,860 | 69,569,860 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14805367 | sva insertion | SAMN09643900 | Sequencing | de novo and local sequence assembly | 26,631 |
| nssv14806213 | sva insertion | SAMN03838746 | Sequencing | de novo and local sequence assembly | 26,336 |
| nssv14807434 | sva insertion | SAMN09651199 | Sequencing | de novo and local sequence assembly | 27,381 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14805367 | Submitted genomic | NC_000023.11:g.703 50010_70350011ins1 16 | GRCh38 (hg38) | NC_000023.11 | ChrX | 70,350,010 | 70,350,010 | ||
| nssv14806213 | Submitted genomic | NC_000023.11:g.703 50010_70350011ins1 16 | GRCh38 (hg38) | NC_000023.11 | ChrX | 70,350,010 | 70,350,010 | ||
| nssv14807434 | Submitted genomic | NC_000023.11:g.703 50010_70350011ins1 16 | GRCh38 (hg38) | NC_000023.11 | ChrX | 70,350,010 | 70,350,010 | ||
| nssv14805367 | Remapped | Perfect | NC_000023.10:g.695 69860_69569861ins1 16NC_000023.10:g.6 9569860_69569861in s116 | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 69,569,860 | 69,569,860 |
| nssv14806213 | Remapped | Perfect | NC_000023.10:g.695 69860_69569861ins1 16NC_000023.10:g.6 9569860_69569861in s116 | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 69,569,860 | 69,569,860 |
| nssv14807434 | Remapped | Perfect | NC_000023.10:g.695 69860_69569861ins1 16NC_000023.10:g.6 9569860_69569861in s116 | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 69,569,860 | 69,569,860 |