nsv5381619
- 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:1,856
- Description:NM_152753.4(SCUBE3):c.829+3_952+2del AND multiple conditions
- Publication(s):Mintz et al. 2021
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 76 SVs from 15 studies. See in: genome view
Overlapping variant regions from other studies: 76 SVs from 15 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|
nsv5381619 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 35,238,018 | 35,239,873 |
nsv5381619 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 35,205,795 | 35,207,650 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv16867107 | deletion | Multiple | Multiple | Abnormal facial shape; Abnormal facial shape; Abnormality of the dentition; Abnormality of the dentition; Abnormality of the skeletal system; Abnormality of the skeletal system; Short stature; Short stature | Pathogenic | ClinVar | RCV001328525.1, VCV000981657.1 |
Variant Call Placement Information
Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|
nssv16867107 | Submitted genomic | NC_000006.12:g.352 38018_35239873del | GRCh38 (hg38) | NC_000006.12 | Chr6 | 35,238,018 | 35,239,873 |
nssv16867107 | Submitted genomic | NC_000006.11:g.352 05795_35207650del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 35,205,795 | 35,207,650 |
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 |
---|---|---|---|---|---|---|---|
nssv16867107 | GRCh37: NC_000006.11:g.35205795_35207650del, GRCh38: NC_000006.12:g.35238018_35239873del | deletion | biparental | Abnormal facial shape; Abnormal facial shape; Abnormality of the dentition; Abnormality of the dentition; Abnormality of the skeletal system; Abnormality of the skeletal system; Short stature; Short stature | Pathogenic | ClinVar | RCV001328525.1, VCV000981657.1 |