nsv3323555
- 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:2,139
- 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: 127 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 127 SVs from 31 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3323555 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 28,633,230 | 28,635,368 | ||
| nsv3323555 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 28,959,742 | 28,961,880 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14475871 | alu deletion | SAMN04229552 | Sequencing | de novo and local sequence assembly | 24,632 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14475871 | Submitted genomic | NC_000001.11:g.286 33230_28635368del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 28,633,230 | 28,635,368 | ||
| nssv14475871 | Remapped | Perfect | NC_000001.10:g.289 59742_28961880delN C_000001.10:g.2895 9742_28961880del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 28,959,742 | 28,961,880 |