nsv3185531
- 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:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:11,650
- 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: 303 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 298 SVs from 64 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3185531 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000021.9 | Chr21 | 10,404,019 | 10,415,668 | ||
| nsv3185531 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000021.8 | Chr21 | 11,096,789 | 11,108,438 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14407904 | alu deletion | SAMN00001696 | Optical mapping, Sequencing | Optical mapping, Sequence alignment, de novo and local sequence assembly | 45,591 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14407904 | Submitted genomic | NC_000021.9:g.1040 4019_10415668del11 649 | GRCh38 (hg38) | NC_000021.9 | Chr21 | 10,404,019 | 10,415,668 | ||
| nssv14407904 | Remapped | Perfect | NC_000021.8:g.1109 6789_11108438del11 649 | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 11,096,789 | 11,108,438 |