nsv3412217
- 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: 123 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 123 SVs from 26 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3412217 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000009.12 | Chr9 | 112,514,990 | 112,514,990 | ||
| nsv3412217 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000009.11 | Chr9 | 115,277,270 | 115,277,270 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14780745 | sva insertion | SAMN09690649 | Sequencing | de novo and local sequence assembly | 21,495 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14780745 | Submitted genomic | NC_000009.12:g.112 514990_112514991in s74 | GRCh38 (hg38) | NC_000009.12 | Chr9 | 112,514,990 | 112,514,990 | ||
| nssv14780745 | Remapped | Perfect | NC_000009.11:g.115 277270_115277271in s74NC_000009.11:g. 115277270_11527727 1ins74 | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 115,277,270 | 115,277,270 |