nsv5673218
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:823,501
- Description:NC_000002.11:g.(?_237481970)_(238305470_?)del AND Bethlem myopathy 1
- Publication(s):Lampe et al. 2004, Wang et al. 2010
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 2077 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 2077 SVs from 79 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5673218 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 236,573,327 | 237,396,827 |
| nsv5673218 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 237,481,970 | 238,305,470 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17171490 | deletion | Multiple | Multiple | BETHLEM MYOPATHY 1; BTHLM1; Bethlem myopathy; Bethlem myopathy 1; Collagen Type VI-Related Disorders | Pathogenic | ClinVar | RCV001383561.1, VCV001071178.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17171490 | Remapped | Perfect | NC_000002.12:g.(?_ 236573327)_(237396 827_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 236,573,327 | 237,396,827 |
| nssv17171490 | Submitted genomic | NC_000002.11:g.(?_ 237481970)_(238305 470_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 237,481,970 | 238,305,470 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17171490 | GRCh37: NC_000002.11:g.(?_237481970)_(238305470_?)del | deletion | germline | BETHLEM MYOPATHY 1; BTHLM1; Bethlem myopathy; Bethlem myopathy 1; Collagen Type VI-Related Disorders | Pathogenic | ClinVar | RCV001383561.1, VCV001071178.1 |