nsv5673743
- 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:3,509,990
- Description:NC_000004.11:g.(?_2200251)_(5710240_?)del AND multiple conditions
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 12287 SVs from 118 studies. See in: genome view
Overlapping variant regions from other studies: 12360 SVs from 118 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5673743 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 2,198,524 | 5,708,513 |
| nsv5673743 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 2,200,251 | 5,710,240 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17173159 | deletion | Multiple | Multiple | Acrofacial dysostosis, Weyers type; Chondroectodermal dysplasia; Curry-Hall syndrome; ELLIS-VAN CREVELD SYNDROME; EVC; Ellis Van Creveld syndrome; See individual phenotypes in OMIM allelic variants; WEYERS ACROFACIAL DYSOSTOSIS; WAD | Pathogenic | ClinVar | RCV001386270.2, VCV001073308.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17173159 | Remapped | Perfect | NC_000004.12:g.(?_ 2198524)_(5708513_ ?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 2,198,524 | 5,708,513 |
| nssv17173159 | Submitted genomic | NC_000004.11:g.(?_ 2200251)_(5710240_ ?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 2,200,251 | 5,710,240 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17173159 | GRCh37: NC_000004.11:g.(?_2200251)_(5710240_?)del | deletion | germline | Acrofacial dysostosis, Weyers type; Chondroectodermal dysplasia; Curry-Hall syndrome; ELLIS-VAN CREVELD SYNDROME; EVC; Ellis Van Creveld syndrome; See individual phenotypes in OMIM allelic variants; WEYERS ACROFACIAL DYSOSTOSIS; WAD | Pathogenic | ClinVar | RCV001386270.2, VCV001073308.2 |