nsv3184242
- 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:3,808
- Description:Absence of a AluY 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: 810 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 864 SVs from 71 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3184242 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000015.10 | Chr15 | 23,426,253 | 23,430,060 | ||
| nsv3184242 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000015.9 | Chr15 | 23,671,400 | 23,675,207 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14405728 | alu deletion | SAMN00001696 | Optical mapping, Sequencing | Optical mapping, Sequence alignment, de novo and local sequence assembly | 45,591 |
| nssv14467083 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv14405728 | Submitted genomic | NC_000015.10:g.234 26253_23430060del3 807 | GRCh38 (hg38) | NC_000015.10 | Chr15 | 23,426,253 | 23,430,060 | ||
| nssv14467083 | Submitted genomic | NC_000015.10:g.234 26253_23430060del3 807 | GRCh38 (hg38) | NC_000015.10 | Chr15 | 23,426,253 | 23,430,060 | ||
| nssv14405728 | Remapped | Perfect | NC_000015.9:g.2367 1400_23675207del38 07 | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 23,671,400 | 23,675,207 |
| nssv14467083 | Remapped | Perfect | NC_000015.9:g.2367 1400_23675207del38 07 | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 23,671,400 | 23,675,207 |