nsv3225284
- Organism: Homo sapiens
- Study:nstd152 (Chaisson et al. 2019)
- Variant Type:copy number variation
- Method Type:Optical mapping
- Submitted on:GRCh38 (hg38)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:155,583
- 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: 640 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 640 SVs from 66 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3225284 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 82,134,811 | 82,290,393 | ||
| nsv3225284 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000011.9 | Chr11 | 81,845,853 | 82,001,435 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv14253544 | deletion | SAMN00006580 | Optical mapping | Optical mapping | Heterozygous | 14,212 |
| nssv14253545 | deletion | SAMN00006581 | Optical mapping | Optical mapping | Heterozygous | 41,185 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14253544 | Submitted genomic | NC_000011.10:g.(82 134811_?)_(?_82290 393)del | GRCh38 (hg38) | NC_000011.10 | Chr11 | 82,134,811 | 82,290,393 | ||
| nssv14253545 | Submitted genomic | NC_000011.10:g.(82 134811_?)_(?_82290 393)del | GRCh38 (hg38) | NC_000011.10 | Chr11 | 82,134,811 | 82,290,393 | ||
| nssv14253544 | Remapped | Perfect | NC_000011.9:g.(818 45853_?)_(?_820014 35)del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 81,845,853 | 82,001,435 |
| nssv14253545 | Remapped | Perfect | NC_000011.9:g.(818 45853_?)_(?_820014 35)del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 81,845,853 | 82,001,435 |