nsv3874159
- 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:40,613
- Description:NC_000012.12:g.(?_115982183)_(116022795_?)del AND Impaired intellectual development and distinctive facial features with cardiac defects
- Publication(s):van Haelst et al. 2014
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 118 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 118 SVs from 34 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3874159 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000012.12 | Chr12 | 115,982,183 | 116,022,795 |
| nsv3874159 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 116,419,988 | 116,460,600 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17955581 | deletion | Multiple | Multiple | Impaired intellectual development and distinctive facial features with cardiac defects | Pathogenic | ClinVar | RCV001777154.7, VCV000221558.5 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv17955581 | Submitted genomic | NC_000012.12:g.(?_ 115982183)_(116022 795_?)del | GRCh38 (hg38) | NC_000012.12 | Chr12 | 115,982,183 | 116,022,795 |
| nssv17955581 | Submitted genomic | NC_000012.11:g.(?_ 116419988)_(116460 600_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 116,419,988 | 116,460,600 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17955581 | GRCh37: NC_000012.11:g.(?_116419988)_(116460600_?)del, GRCh38: NC_000012.12:g.(?_115982183)_(116022795_?)del | deletion | germline | Impaired intellectual development and distinctive facial features with cardiac defects | Pathogenic | ClinVar | RCV001777154.7, VCV000221558.5 |