nsv4454487
- 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:6,295
- Description:NC_000019.10:g.(?_55140873)_(55147167_?)del AND Nemaline myopathy 5
- Publication(s):Nowak et al. 2012
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 94 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 90 SVs from 27 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv4454487 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 55,140,873 | 55,147,167 |
| nsv4454487 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 55,652,241 | 55,658,535 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15770806 | deletion | Multiple | Multiple | Amish nemaline myopathy; NEMALINE MYOPATHY 5; NEM5; Nemaline myopathy 5; See individual phenotypes in OMIM allelic variants | Pathogenic | ClinVar | RCV000817940.1, VCV000660688.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15770806 | Submitted genomic | NC_000019.10:g.(?_ 55140873)_(5514716 7_?)del | GRCh38 (hg38) | NC_000019.10 | Chr19 | 55,140,873 | 55,147,167 |
| nssv15770806 | Submitted genomic | NC_000019.9:g.(?_5 5652241)_(55658535 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 55,652,241 | 55,658,535 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15770806 | GRCh37: NC_000019.9:g.(?_55652241)_(55658535_?)del, GRCh38: NC_000019.10:g.(?_55140873)_(55147167_?)del | deletion | germline | Amish nemaline myopathy; NEMALINE MYOPATHY 5; NEM5; Nemaline myopathy 5; See individual phenotypes in OMIM allelic variants | Pathogenic | ClinVar | RCV000817940.1, VCV000660688.1 |