nsv3167821
- 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:74,156
- 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: 324 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 324 SVs from 35 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3167821 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 135,728,754 (-7, +7) | 135,802,909 (-7, +7) |
| nsv3167821 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 136,740,997 (-7, +7) | 136,815,152 (-7, +7) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14239289 | deletion | DB110 | Sequencing | Paired-end mapping | 35 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14239289 | Remapped | Perfect | NC_000008.11:g.(13 5728747_135728761) _(135802902_135802 916)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 135,728,754 (-7, +7) | 135,802,909 (-7, +7) |
| nssv14239289 | Submitted genomic | NC_000008.10:g.(13 6740990_136741004) _(136815145_136815 159)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 136,740,997 (-7, +7) | 136,815,152 (-7, +7) |