nsv3180688
- 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:13,145
- 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: 437 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 437 SVs from 78 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3180688 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 100,729,950 | 100,743,094 | ||
| nsv3180688 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 100,327,573 | 100,340,717 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14382223 | alu deletion | SAMN00001696 | Optical mapping, Sequencing | Optical mapping, Sequence alignment, de novo and local sequence assembly | 45,591 |
| nssv14461134 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv14382223 | Submitted genomic | NC_000007.14:g.100 729950_100743094de l13144 | GRCh38 (hg38) | NC_000007.14 | Chr7 | 100,729,950 | 100,743,094 | ||
| nssv14461134 | Submitted genomic | NC_000007.14:g.100 729950_100743094de l13144 | GRCh38 (hg38) | NC_000007.14 | Chr7 | 100,729,950 | 100,743,094 | ||
| nssv14382223 | Remapped | Perfect | NC_000007.13:g.100 327573_100340717de l13144 | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 100,327,573 | 100,340,717 |
| nssv14461134 | Remapped | Perfect | NC_000007.13:g.100 327573_100340717de l13144 | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 100,327,573 | 100,340,717 |