nsv3168513
- 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:107,521
- 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: 455 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 455 SVs from 57 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3168513 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 84,446,633 (-317, +317) | 84,554,153 (-317, +317) |
| nsv3168513 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 85,358,868 (-317, +317) | 85,466,388 (-317, +317) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14238967 | deletion | DB53 | Sequencing | Paired-end mapping | 125 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14238967 | Remapped | Perfect | NC_000008.11:g.(84 446316_84446950)_( 84553836_84554470) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 84,446,633 (-317, +317) | 84,554,153 (-317, +317) |
| nssv14238967 | Submitted genomic | NC_000008.10:g.(85 358551_85359185)_( 85466071_85466705) del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 85,358,868 (-317, +317) | 85,466,388 (-317, +317) |