nsv3188888
- Organism: Homo sapiens
- Study:nstd152 (Chaisson et al. 2019)
- Variant Type:mobile element deletion
- Method Type:Optical mapping, Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:8,487
- Description:Absence of a AluS mobile element insertion that is present in the reference
- Publication(s):Chaisson 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: 493 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 493 SVs from 81 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3188888 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000004.12 | Chr4 | 172,503,884 | 172,512,370 | ||
| nsv3188888 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 173,425,035 | 173,433,521 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14435585 | alu deletion | HG00514 | Optical mapping, Sequencing | Optical mapping, Sequence alignment, de novo and local sequence assembly | 39,861 |
| nssv14458970 | alu deletion | SAMN00006581 | Optical mapping, Sequencing | Optical mapping, Sequence alignment, de novo and local sequence assembly | 41,185 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14435585 | Submitted genomic | NC_000004.12:g.172 503884_172512370de l8486 | GRCh38 (hg38) | NC_000004.12 | Chr4 | 172,503,884 | 172,512,370 | ||
| nssv14458970 | Submitted genomic | NC_000004.12:g.172 503884_172512370de l8486 | GRCh38 (hg38) | NC_000004.12 | Chr4 | 172,503,884 | 172,512,370 | ||
| nssv14435585 | Remapped | Perfect | NC_000004.11:g.173 425035_173433521de l8486 | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 173,425,035 | 173,433,521 |
| nssv14458970 | Remapped | Perfect | NC_000004.11:g.173 425035_173433521de l8486 | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 173,425,035 | 173,433,521 |