nsv3194057
- 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:93,056
- 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: 319 SVs from 44 studies. See in: genome view
Overlapping variant regions from other studies: 319 SVs from 44 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3194057 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 119,689,111 | 119,782,166 | ||
| nsv3194057 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 120,010,268 | 120,103,312 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv14275605 | deletion | SAMN00006579 | Optical mapping | Optical mapping | Homozygous | 13,953 |
| nssv14275606 | 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 | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14275605 | Submitted genomic | NC_000006.12:g.(11 9689111_?)_(?_1197 82166)del | GRCh38 (hg38) | NC_000006.12 | Chr6 | 119,689,111 | 119,782,166 | ||
| nssv14275606 | Submitted genomic | NC_000006.12:g.(11 9689111_?)_(?_1197 82166)del | GRCh38 (hg38) | NC_000006.12 | Chr6 | 119,689,111 | 119,782,166 | ||
| nssv14275605 | Remapped | Good | NC_000006.11:g.(12 0010268_?)_(?_1201 03312)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 120,010,268 | 120,103,312 |
| nssv14275606 | Remapped | Good | NC_000006.11:g.(12 0010268_?)_(?_1201 03312)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 120,010,268 | 120,103,312 |