nsv3116319
- Organism: Homo sapiens
- Study:nstd145 (Lu et al. 2017)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:30,754
- Publication(s):Lu et al. 2017
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: 943 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 943 SVs from 64 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3116319 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 45,488,326 | 45,519,079 |
| nsv3116319 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 46,908,240 | 46,938,993 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14102149 | deletion | sample353 | Oligo aCGH | Probe signal intensity | 46 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14102149 | Remapped | Perfect | NC_000021.9:g.(?_4 5488326)_(45519079 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 45,488,326 | 45,519,079 |
| nssv14102149 | Submitted genomic | NC_000021.8:g.(?_4 6908240)_(46938993 _?)del | GRCh37 (hg19) | NC_000021.8 | Chr21 | 46,908,240 | 46,938,993 |