nsv3220078
- 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:95,967
- 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: 618 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 618 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 | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3220078 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000008.11 | Chr8 | 137,637,342 | 137,733,308 | ||
| nsv3220078 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 138,649,585 | 138,745,551 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv14278882 | deletion | SAMN00006466 | Optical mapping | Optical mapping | Heterozygous | 14,137 |
| nssv14278883 | deletion | SAMN00006580 | Optical mapping | Optical mapping | Homozygous | 14,212 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14278882 | Submitted genomic | NC_000008.11:g.(13 7637342_?)_(?_1377 33308)del | GRCh38 (hg38) | NC_000008.11 | Chr8 | 137,637,342 | 137,733,308 | ||
| nssv14278883 | Submitted genomic | NC_000008.11:g.(13 7637342_?)_(?_1377 33308)del | GRCh38 (hg38) | NC_000008.11 | Chr8 | 137,637,342 | 137,733,308 | ||
| nssv14278882 | Remapped | Perfect | NC_000008.10:g.(13 8649585_?)_(?_1387 45551)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 138,649,585 | 138,745,551 |
| nssv14278883 | Remapped | Perfect | NC_000008.10:g.(13 8649585_?)_(?_1387 45551)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 138,649,585 | 138,745,551 |