nsv5381767
- 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:18,450,622
- Description:GRCh37/hg19 9p24.3-22.1(chr9:204193-18654812) AND Trigonocephaly
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 59595 SVs from 136 studies. See in: genome view
Overlapping variant regions from other studies: 59597 SVs from 136 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5381767 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 204,193 | 18,654,814 |
| nsv5381767 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 204,193 | 18,654,812 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16867393 | copy number loss | Multiple | Multiple | Trigonocephaly; Trigonocephaly | Pathogenic | ClinVar | RCV001352660.1, VCV001047891.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16867393 | Remapped | Perfect | NC_000009.12:g.(?_ 204193)_(18654814_ ?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 204,193 | 18,654,814 |
| nssv16867393 | Submitted genomic | NC_000009.11:g.(?_ 204193)_(18654812_ ?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 204,193 | 18,654,812 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16867393 | GRCh37: NC_000009.11:g.(?_204193)_(18654812_?)del | copy number loss | de novo | Trigonocephaly; Trigonocephaly | Pathogenic | ClinVar | RCV001352660.1, VCV001047891.1 |