nsv7097002
- 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:40,041
- Description:NC_000004.11:g.(?_5710003)_(5750043_?)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: 282 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 282 SVs from 49 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7097002 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 5,708,276 | 5,748,316 |
| nsv7097002 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 5,710,003 | 5,750,043 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18790121 | 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 | RCV003113777.1, VCV002427448.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18790121 | Remapped | Perfect | NC_000004.12:g.(?_ 5708276)_(5748316_ ?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 5,708,276 | 5,748,316 |
| nssv18790121 | Submitted genomic | NC_000004.11:g.(?_ 5710003)_(5750043_ ?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 5,710,003 | 5,750,043 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18790121 | GRCh37: NC_000004.11:g.(?_5710003)_(5750043_?)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 | RCV003113777.1, VCV002427448.2 |