nsv6634306
- 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:7,108
- Description:NM_001013693.3(LDLRAD2):c.643+518_*1484del AND Schwartz-Jampel syndrome type 1
- Publication(s):Arikawa-Hirasawa et al. 2002, Spranger et al. 2000
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 151 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 151 SVs from 54 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv6634306 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 21,816,592 | 21,823,699 |
| nsv6634306 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 22,143,085 | 22,150,192 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18326385 | deletion | Multiple | Multiple | SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1; Schwartz-Jampel syndrome type 1 | Pathogenic | ClinVar | RCV001800299.7, VCV000014926.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv18326385 | Submitted genomic | NC_000001.11:g.218 16592_21823699del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 21,816,592 | 21,823,699 |
| nssv18326385 | Submitted genomic | NC_000001.10:g.221 43085_22150192del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 22,143,085 | 22,150,192 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18326385 | GRCh37: NC_000001.10:g.22143085_22150192del, GRCh38: NC_000001.11:g.21816592_21823699del | deletion | germline | SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1; Schwartz-Jampel syndrome type 1 | Pathogenic | ClinVar | RCV001800299.7, VCV000014926.3 |