nsv3364768
- Organism: Homo sapiens
- Study:nstd162 (Audano et al. 2019)
- Variant Type:mobile element deletion
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:2,932
- Description:Absence of a Alu 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: 323 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 325 SVs from 59 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3364768 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000022.11 | Chr22 | 17,658,932 | 17,661,863 | ||
| nsv3364768 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000022.10 | Chr22 | 18,141,698 | 18,144,629 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14613309 | alu deletion | SAMN05603729 | Sequencing | de novo and local sequence assembly | 24,108 |
| nssv14624810 | alu deletion | SAMN02744161 | Sequencing | de novo and local sequence assembly | 20,941 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14613309 | Submitted genomic | NC_000022.11:g.176 58932_17661863del | GRCh38 (hg38) | NC_000022.11 | Chr22 | 17,658,932 | 17,661,863 | ||
| nssv14624810 | Submitted genomic | NC_000022.11:g.176 58932_17661863del | GRCh38 (hg38) | NC_000022.11 | Chr22 | 17,658,932 | 17,661,863 | ||
| nssv14613309 | Remapped | Perfect | NC_000022.10:g.181 41698_18144629delN C_000022.10:g.1814 1698_18144629del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 18,141,698 | 18,144,629 |
| nssv14624810 | Remapped | Perfect | NC_000022.10:g.181 41698_18144629delN C_000022.10:g.1814 1698_18144629del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 18,141,698 | 18,144,629 |