nsv3335280
- Organism: Homo sapiens
- Study:nstd162 (Audano et al. 2019)
- Variant Type:mobile element deletion
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:6,396
- Description:Absence of a L1 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: 207 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 207 SVs from 55 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3335280 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000012.12 | Chr12 | 127,094,857 | 127,101,252 | ||
| nsv3335280 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 127,579,402 | 127,585,797 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14746244 | line1 deletion | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv14746244 | Submitted genomic | NC_000012.12:g.127 094857_127101252de l | GRCh38 (hg38) | NC_000012.12 | Chr12 | 127,094,857 | 127,101,252 | ||
| nssv14746244 | Remapped | Perfect | NC_000012.11:g.127 579402_127585797de lNC_000012.11:g.12 7579402_127585797d el | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 127,579,402 | 127,585,797 |