nsv3565987
- Organism: Homo sapiens
- Study:nstd165 (Bhaskaran et al. 2019)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:8,015
- Publication(s):Bhaskaran 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: 295 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 293 SVs from 33 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3565987 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 43,049,121 | 43,057,135 |
| nsv3565987 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 41,201,138 | 41,209,152 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv14814890 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14814890 | Remapped | Perfect | NC_000017.11:g.430 49121_43057135del8 015 | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 43,049,121 | 43,057,135 |
| nssv14814890 | Submitted genomic | NC_000017.10:g.412 01138_41209152del8 015 | GRCh37 (hg19) | NC_000017.10 | Chr17 | 41,201,138 | 41,209,152 |