nsv3169316
- 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:114,785
- 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: 606 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 612 SVs from 59 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3169316 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 28,972,197 (-2, +2) | 29,086,981 (-2, +2) |
| nsv3169316 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 28,972,195 (-2, +2) | 29,086,979 (-2, +2) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14239630 | duplication | DB95 | Sequencing | Paired-end mapping | 30 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14239630 | Remapped | Perfect | NC_000009.12:g.(28 972195_28972199)_( 29086979_29086983) dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 28,972,197 (-2, +2) | 29,086,981 (-2, +2) |
| nssv14239630 | Submitted genomic | NC_000009.11:g.(28 972193_28972197)_( 29086977_29086981) dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 28,972,195 (-2, +2) | 29,086,979 (-2, +2) |