nsv5673749
- 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:8,978
- Description:NM_000344.4(SMN1):c.82-2548_723+515del AND Werdnig-Hoffmann disease
- Publication(s):Finkel et al. 2016, Prior et al. 2000, Rudnik-Schöneborn et al. 2012, Wang et al. 2007
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 423 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 423 SVs from 47 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv5673749 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000005.10 | Chr5 | 70,936,274 | 70,945,251 |
| nsv5673749 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 70,232,101 | 70,241,078 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17173226 | deletion | Multiple | Multiple | SPINAL MUSCULAR ATROPHY, TYPE I; SMA1; Spinal Muscular Atrophy; Werdnig-Hoffmann disease | Pathogenic | ClinVar | RCV000853407.1, VCV000692109.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv17173226 | Submitted genomic | NC_000005.10:g.709 36274_70945251del | GRCh38 (hg38) | NC_000005.10 | Chr5 | 70,936,274 | 70,945,251 |
| nssv17173226 | Submitted genomic | NC_000005.9:g.7023 2101_70241078del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 70,232,101 | 70,241,078 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17173226 | GRCh37: NC_000005.9:g.70232101_70241078del, GRCh38: NC_000005.10:g.70936274_70945251del | deletion | paternal | SPINAL MUSCULAR ATROPHY, TYPE I; SMA1; Spinal Muscular Atrophy; Werdnig-Hoffmann disease | Pathogenic | ClinVar | RCV000853407.1, VCV000692109.1 |