nsv3372532
- 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:1,266
- 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: 163 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 163 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3372532 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 42,625,200 | 42,626,465 | ||
| nsv3372532 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 42,852,340 | 42,853,605 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14589685 | alu deletion | SAMN05603745 | Sequencing | de novo and local sequence assembly | 27,447 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14589685 | Submitted genomic | NC_000002.12:g.426 25200_42626465del | GRCh38 (hg38) | NC_000002.12 | Chr2 | 42,625,200 | 42,626,465 | ||
| nssv14589685 | Remapped | Perfect | NC_000002.11:g.428 52340_42853605delN C_000002.11:g.4285 2340_42853605del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 42,852,340 | 42,853,605 |