nsv3343530
- Organism: Homo sapiens
- Study:nstd162 (Audano et al. 2019)
- Variant Type:mobile element deletion
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:6,073
- 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: 266 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 266 SVs from 50 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3343530 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000016.10 | Chr16 | 83,637,235 | 83,643,307 | ||
| nsv3343530 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000016.9 | Chr16 | 83,670,840 | 83,676,912 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14753740 | line1 deletion | SAMN05603745 | Sequencing | de novo and local sequence assembly | 27,447 |
| nssv14754144 | line1 deletion | SAMN03838746 | Sequencing | de novo and local sequence assembly | 26,336 |
| nssv14754469 | line1 deletion | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv14753740 | Submitted genomic | NC_000016.10:g.836 37235_83643307del | GRCh38 (hg38) | NC_000016.10 | Chr16 | 83,637,235 | 83,643,307 | ||
| nssv14754144 | Submitted genomic | NC_000016.10:g.836 37235_83643307del | GRCh38 (hg38) | NC_000016.10 | Chr16 | 83,637,235 | 83,643,307 | ||
| nssv14754469 | Submitted genomic | NC_000016.10:g.836 37235_83643307del | GRCh38 (hg38) | NC_000016.10 | Chr16 | 83,637,235 | 83,643,307 | ||
| nssv14753740 | Remapped | Perfect | NC_000016.9:g.8367 0840_83676912delNC _000016.9:g.836708 40_83676912del | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 83,670,840 | 83,676,912 |
| nssv14754144 | Remapped | Perfect | NC_000016.9:g.8367 0840_83676912delNC _000016.9:g.836708 40_83676912del | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 83,670,840 | 83,676,912 |
| nssv14754469 | Remapped | Perfect | NC_000016.9:g.8367 0840_83676912delNC _000016.9:g.836708 40_83676912del | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 83,670,840 | 83,676,912 |