nsv3219416
- 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:125,139
- 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: 416 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 514 SVs from 58 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3219416 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000022.11 | Chr22 | 15,346,936 | 15,472,074 | ||
| nsv3219416 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000022.10 | Chr22 | 16,505,889 | 16,631,027 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv14269309 | deletion | SAMN00006580 | Optical mapping | Optical mapping | Homozygous | 14,212 |
| nssv14269310 | deletion | SAMN00001695 | Optical mapping | Optical mapping | Homozygous | 15,732 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14269309 | Submitted genomic | NC_000022.11:g.(15 346936_?)_(?_15472 074)del | GRCh38 (hg38) | NC_000022.11 | Chr22 | 15,346,936 | 15,472,074 | ||
| nssv14269310 | Submitted genomic | NC_000022.11:g.(15 346936_?)_(?_15472 074)del | GRCh38 (hg38) | NC_000022.11 | Chr22 | 15,346,936 | 15,472,074 | ||
| nssv14269309 | Remapped | Perfect | NC_000022.10:g.(16 505889_?)_(?_16631 027)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 16,505,889 | 16,631,027 |
| nssv14269310 | Remapped | Perfect | NC_000022.10:g.(16 505889_?)_(?_16631 027)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 16,505,889 | 16,631,027 |