nsv3070020
- Organism: Homo sapiens
- Study:nstd90 (dbSNP curated variants)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:970
- Data Source:BCMHGSC_JDW
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: 203 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 203 SVs from 50 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3070020 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 59,792,855 | 59,793,824 |
| nsv3070020 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 57,870,216 | 57,871,185 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis |
|---|---|---|---|---|
| nssv14040078 | deletion | JWB-4057498 | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14040078 | Remapped | Perfect | NC_000017.11:g.597 92855_59793824del9 70 | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 59,792,855 | 59,793,824 |
| nssv14040078 | Submitted genomic | NC_000017.10:g.578 70216_57871185del9 70 | GRCh37 (hg19) | NC_000017.10 | Chr17 | 57,870,216 | 57,871,185 |