nsv5672528
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:185
- Description:NC_000010.10:g.(?_123276813)_(123276997_?)del AND FGFR2-related craniosynostosis
- Publication(s):Robin et al. 1998
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 65 SVs from 14 studies. See in: genome view
Overlapping variant regions from other studies: 65 SVs from 14 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5672528 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 121,517,299 | 121,517,483 |
| nsv5672528 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 123,276,813 | 123,276,997 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17173026 | deletion | Multiple | Multiple | FGFR2 related craniosynostosis | Pathogenic | ClinVar | RCV001386936.4, VCV001073828.4 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17173026 | Remapped | Perfect | NC_000010.11:g.(?_ 121517299)_(121517 483_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 121,517,299 | 121,517,483 |
| nssv17173026 | Submitted genomic | NC_000010.10:g.(?_ 123276813)_(123276 997_?)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 123,276,813 | 123,276,997 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17173026 | GRCh37: NC_000010.10:g.(?_123276813)_(123276997_?)del | deletion | germline | FGFR2 related craniosynostosis | Pathogenic | ClinVar | RCV001386936.4, VCV001073828.4 |