nsv3168056
- Organism: Homo sapiens
- Study:nstd158 (Cleal et al. 2019)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:95,753,190
- Publication(s):Cleal 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: 177272 SVs from 152 studies. See in: genome view
Overlapping variant regions from other studies: 175755 SVs from 152 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3168056 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 84,244,117 (-403, +403) | 179,997,306 (-403, +403) |
| nsv3168056 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 84,709,800 (-403, +403) | 179,966,441 (-403, +403) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14239470 | duplication | DB57 | Sequencing | Paired-end mapping | 76 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14239470 | Remapped | Good | NC_000001.11:g.(84 243714_84244520)_( 179996903_17999770 9)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 84,244,117 (-403, +403) | 179,997,306 (-403, +403) |
| nssv14239470 | Submitted genomic | NC_000001.10:g.(84 709397_84710203)_( 179966038_17996684 4)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 84,709,800 (-403, +403) | 179,966,441 (-403, +403) |