nsv3193372
- 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:103,339
- 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: 372 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 372 SVs from 56 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3193372 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 95,980,568 | 96,083,906 | ||
| nsv3193372 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 96,446,124 | 96,549,462 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv14256823 | deletion | SAMN00006466 | Optical mapping | Optical mapping | Heterozygous | 14,137 |
| nssv14256824 | deletion | SAMN00006580 | Optical mapping | Optical mapping | Heterozygous | 14,212 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14256823 | Submitted genomic | NC_000001.11:g.(95 980568_?)_(?_96083 906)del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 95,980,568 | 96,083,906 | ||
| nssv14256824 | Submitted genomic | NC_000001.11:g.(95 980568_?)_(?_96083 906)del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 95,980,568 | 96,083,906 | ||
| nssv14256823 | Remapped | Perfect | NC_000001.10:g.(96 446124_?)_(?_96549 462)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 96,446,124 | 96,549,462 |
| nssv14256824 | Remapped | Perfect | NC_000001.10:g.(96 446124_?)_(?_96549 462)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 96,446,124 | 96,549,462 |