nsv3167827
- 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:243,716
- 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: 776 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 776 SVs from 67 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3167827 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 19,440,039 (-234, +234) | 19,683,754 (-234, +234) |
| nsv3167827 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 19,441,662 (-234, +234) | 19,685,377 (-234, +234) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14238853 | deletion | DB57 | Sequencing | Paired-end mapping | 76 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14238853 | Remapped | Perfect | NC_000004.12:g.(19 439805_19440273)_( 19683520_19683988) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 19,440,039 (-234, +234) | 19,683,754 (-234, +234) |
| nssv14238853 | Submitted genomic | NC_000004.11:g.(19 441428_19441896)_( 19685143_19685611) del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 19,441,662 (-234, +234) | 19,685,377 (-234, +234) |