nsv7098848
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:24,223
- Description:NC_000010.11:g.72138925_72163147del AND Spinal muscular atrophy with congenital bone fractures 2
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 108 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 108 SVs from 28 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7098848 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000010.11 | Chr10 | 72,138,925 | 72,163,147 | ||
| nsv7098848 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000010.10 | Chr10 | 73,898,683 | 73,922,905 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18792670 | deletion | Multiple | Multiple | SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2; SMABF2; Spinal muscular atrophy with congenital bone fractures 2 | Pathogenic | ClinVar | RCV003224773.1, VCV002500145.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18792670 | Submitted genomic | NC_000010.11:g.721 38925_72163147del | GRCh38 (hg38) | NC_000010.11 | Chr10 | 72,138,925 | 72,163,147 | ||
| nssv18792670 | Remapped | Perfect | NC_000010.10:g.738 98683_73922905del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 73,898,683 | 73,922,905 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18792670 | GRCh38: NC_000010.11:g.72138925_72163147del | deletion | biparental | SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2; SMABF2; Spinal muscular atrophy with congenital bone fractures 2 | Pathogenic | ClinVar | RCV003224773.1, VCV002500145.1 |