nsv3168593
- 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:600,062
- 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: 1670 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 1670 SVs from 80 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3168593 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 77,640,188 (-549, +549) | 78,240,249 (-549, +549) |
| nsv3168593 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 78,552,424 (-549, +549) | 79,152,484 (-549, +549) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14239610 | duplication | DB53 | Sequencing | Paired-end mapping | 125 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14239610 | Remapped | Perfect | NC_000008.11:g.(77 639639_77640737)_( 78239700_78240798) dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 77,640,188 (-549, +549) | 78,240,249 (-549, +549) |
| nssv14239610 | Submitted genomic | NC_000008.10:g.(78 551875_78552973)_( 79151935_79153033) dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 78,552,424 (-549, +549) | 79,152,484 (-549, +549) |