nsv3198623
- Organism: Homo sapiens
- Study:nstd152 (Chaisson et al. 2019)
- Variant Type:copy number variation
- Method Type:Optical mapping
- Submitted on:GRCh38 (hg38)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:80,793
- 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: 331 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 331 SVs from 65 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3198623 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000005.10 | Chr5 | 34,302,758 | 34,383,550 | ||
| nsv3198623 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 34,302,863 | 34,383,655 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv14273345 | deletion | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv14273345 | Submitted genomic | NC_000005.10:g.(34 302758_?)_(?_34383 550)del | GRCh38 (hg38) | NC_000005.10 | Chr5 | 34,302,758 | 34,383,550 | ||
| nssv14273345 | Remapped | Perfect | NC_000005.9:g.(343 02863_?)_(?_343836 55)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 34,302,863 | 34,383,655 |