nsv3229760
- Organism: Homo sapiens
- Study:nstd152 (Chaisson et al. 2019)
- Variant Type:insertion
- Method Type:Optical mapping
- Submitted on:GRCh38 (hg38)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:108,150
- 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: 2011 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 2011 SVs from 82 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3229760 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 158,253,761 | 158,361,910 | ||
| nsv3229760 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 158,046,453 | 158,154,602 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv14278710 | insertion | SAMN00001694 | Optical mapping | Optical mapping | Homozygous | 16,419 |
| nssv14278711 | insertion | SAMN00001696 | Optical mapping | Optical mapping | Heterozygous | 45,591 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14278710 | Submitted genomic | NC_000007.14:g.(15 8253761_?)_(?_1583 61910)ins1200 | GRCh38 (hg38) | NC_000007.14 | Chr7 | 158,253,761 | 158,361,910 | ||
| nssv14278711 | Submitted genomic | NC_000007.14:g.(15 8253761_?)_(?_1583 61910)ins1200 | GRCh38 (hg38) | NC_000007.14 | Chr7 | 158,253,761 | 158,361,910 | ||
| nssv14278710 | Remapped | Perfect | NC_000007.13:g.(15 8046453_?)_(?_1581 54602)ins1200 | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 158,046,453 | 158,154,602 |
| nssv14278711 | Remapped | Perfect | NC_000007.13:g.(15 8046453_?)_(?_1581 54602)ins1200 | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 158,046,453 | 158,154,602 |