nsv3168198
- 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:84,608
- 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: 261 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 261 SVs from 49 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3168198 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 182,553,712 (-4, +4) | 182,638,319 (-4, +4) |
| nsv3168198 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 182,271,500 (-4, +4) | 182,356,107 (-4, +4) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14239552 | duplication | DB79 | Sequencing | Paired-end mapping | 61 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14239552 | Remapped | Perfect | NC_000003.12:g.(18 2553708_182553716) _(182638315_182638 323)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 182,553,712 (-4, +4) | 182,638,319 (-4, +4) |
| nssv14239552 | Submitted genomic | NC_000003.11:g.(18 2271496_182271504) _(182356103_182356 111)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 182,271,500 (-4, +4) | 182,356,107 (-4, +4) |