nsv3168167
- 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:145,751,623
- 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: 377529 SVs from 154 studies. See in: genome view
Overlapping variant regions from other studies: 376666 SVs from 154 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3168167 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 12,299,902 (-231, +231) | 158,051,524 (-231, +231) |
| nsv3168167 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 12,300,135 (-231, +231) | 158,472,556 (-231, +231) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14238903 | deletion | DB51 | Sequencing | Paired-end mapping | 89 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14238903 | Remapped | Good | NC_000006.12:g.(12 299671_12300133)_( 158051293_15805175 5)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 12,299,902 (-231, +231) | 158,051,524 (-231, +231) |
| nssv14238903 | Submitted genomic | NC_000006.11:g.(12 299904_12300366)_( 158472325_15847278 7)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 12,300,135 (-231, +231) | 158,472,556 (-231, +231) |