nsv5672957
- 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:8,274
- Description:NM_000152.5(GAA):c.1195-19_2190-17del AND Glycogen storage disease, type II
- Publication(s):Authors/Task Force members et al. 2014, Leslie et al. 2007, Miller et al. 2021, Miller et al. 2022
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 170 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 170 SVs from 43 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv5672957 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 80,108,677 | 80,116,950 |
| nsv5672957 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 78,082,476 | 78,090,749 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15606990 | deletion | Multiple | Multiple | GLYCOGEN STORAGE DISEASE II; GSD2; Glycogen storage disease due to acid maltase deficiency; Glycogen storage disease, type II; Pompe Disease | Pathogenic | ClinVar | RCV000780267.1, VCV000632821.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv15606990 | Submitted genomic | NC_000017.11:g.801 08677_80116950del | GRCh38 (hg38) | NC_000017.11 | Chr17 | 80,108,677 | 80,116,950 |
| nssv15606990 | Submitted genomic | NC_000017.10:g.780 82476_78090749del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 78,082,476 | 78,090,749 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15606990 | GRCh37: NC_000017.10:g.78082476_78090749del, GRCh38: NC_000017.11:g.80108677_80116950del | deletion | germline | GLYCOGEN STORAGE DISEASE II; GSD2; Glycogen storage disease due to acid maltase deficiency; Glycogen storage disease, type II; Pompe Disease | Pathogenic | ClinVar | RCV000780267.1, VCV000632821.1 |