nsv7137081
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:3,694
- Description:NM_182758.4(WDR72):c.1766-2423_1962+1074del AND Amelogenesis imperfecta
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 140 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 140 SVs from 40 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv7137081 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000015.10 | Chr15 | 53,664,498 | 53,668,191 |
| nsv7137081 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 53,956,695 | 53,960,388 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18830792 | deletion | Multiple | Multiple | Amelogenesis imperfecta; Amelogenesis imperfecta; Amelogenesis imperfecta | Pathogenic | ClinVar | RCV003313812.1, VCV001879842.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv18830792 | Submitted genomic | NC_000015.10:g.536 64498_53668191del | GRCh38 (hg38) | NC_000015.10 | Chr15 | 53,664,498 | 53,668,191 |
| nssv18830792 | Submitted genomic | NC_000015.9:g.5395 6695_53960388del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 53,956,695 | 53,960,388 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18830792 | GRCh37: NC_000015.9:g.53956695_53960388del, GRCh38: NC_000015.10:g.53664498_53668191del | deletion | biparental | Amelogenesis imperfecta; Amelogenesis imperfecta; Amelogenesis imperfecta | Pathogenic | ClinVar | RCV003313812.1, VCV001879842.1 |