nsv997216
- Organism: Homo sapiens
- Study:nstd45 (ClinGen Curated Dosage Sensitivity Map-obsoleted)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:129,339
- Description:SMAD3
- Publication(s):Hilhorst-Hofstee et al. 2013, Regalado et al. 2011, Riggs et al. 2011, van de Laar et al. 2011
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 361 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 361 SVs from 51 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv997216 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 67,065,857 | 67,195,195 |
| nsv997216 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 67,358,195 | 67,487,533 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Copy number |
|---|---|---|---|---|---|---|---|
| nssv3442620 | copy number loss | Curated | Curated | LOEYS-DIETZ SYNDROME 3; LDS3 | Pathogenic | ClinGen Dosage Sensitivity Map | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv3442620 | Remapped | Perfect | NC_000015.10:g.(?_ 67065857)_(6719519 5_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 67,065,857 | 67,195,195 |
| nssv3442620 | Submitted genomic | NC_000015.9:g.(?_6 7358195)_(67487533 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 67,358,195 | 67,487,533 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Copy number |
|---|---|---|---|---|---|---|
| nssv3442620 | GRCh37: NC_000015.9:g.(?_67358195)_(67487533_?)del | copy number loss | LOEYS-DIETZ SYNDROME 3; LDS3 | Pathogenic | ClinGen Dosage Sensitivity Map | 1 |