nsv3220797
- 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:140,270
- 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: 1508 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 1443 SVs from 80 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv3220797 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 57,860,025 | - | 58,000,294 | ||
| nsv3220797 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 57,919,731 | 58,054,331 | - |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv14277485 | deletion | HG00514 | Optical mapping | Optical mapping | Homozygous | 39,861 |
| nssv14277486 | deletion | SAMN00001694 | Optical mapping | Optical mapping | Homozygous | 16,419 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nssv14277485 | Submitted genomic | NC_000007.14:g.(57 860025_?)_(?_58000 294)del | GRCh38 (hg38) | NC_000007.14 | Chr7 | 57,860,025 | - | 58,000,294 | ||
| nssv14277486 | Submitted genomic | NC_000007.14:g.(57 860025_?)_(?_58000 294)del | GRCh38 (hg38) | NC_000007.14 | Chr7 | 57,860,025 | - | 58,000,294 | ||
| nssv14277485 | Remapped | Good | NC_000007.13:g.(57 919731_?)_(5805433 1_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 57,919,731 | 58,054,331 | - |
| nssv14277486 | Remapped | Good | NC_000007.13:g.(57 919731_?)_(5805433 1_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 57,919,731 | 58,054,331 | - |