nsv3169139
- 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:35,563
- 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: 1229 SVs from 86 studies. See in: genome view
Overlapping variant regions from other studies: 1234 SVs from 86 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3169139 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 248,578,391 (-5, +5) | 248,613,953 (-5, +5) |
| nsv3169139 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 248,741,692 (-5, +5) | 248,777,254 (-5, +5) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14238874 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv14238874 | Remapped | Perfect | NC_000001.11:g.(24 8578386_248578396) _(248613948_248613 958)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 248,578,391 (-5, +5) | 248,613,953 (-5, +5) |
| nssv14238874 | Submitted genomic | NC_000001.10:g.(24 8741687_248741697) _(248777249_248777 259)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 248,741,692 (-5, +5) | 248,777,254 (-5, +5) |