nsv5673925
- 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:4,902
- Description:NM_000083.3(CLCN1):c.50_434-202del AND multiple conditions
- Publication(s):Burgunder et al. 2010, Dunø et al. 2005
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 92 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 90 SVs from 20 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv5673925 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 143,316,257 | 143,321,158 |
| nsv5673925 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 143,013,350 | 143,018,251 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15142995 | deletion | Multiple | Multiple | Congenital myotonia, autosomal dominant form; Congenital myotonia, autosomal recessive form; MYOTONIA CONGENITA, AUTOSOMAL DOMINANT; MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE; Myotonia Congenita; Thomsen and Becker disease | Pathogenic | ClinVar | RCV000703658.1, VCV000580190.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv15142995 | Submitted genomic | NC_000007.14:g.143 316257_143321158de l | GRCh38 (hg38) | NC_000007.14 | Chr7 | 143,316,257 | 143,321,158 |
| nssv15142995 | Submitted genomic | NC_000007.13:g.143 013350_143018251de l | GRCh37 (hg19) | NC_000007.13 | Chr7 | 143,013,350 | 143,018,251 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15142995 | GRCh37: NC_000007.13:g.143013350_143018251del, GRCh38: NC_000007.14:g.143316257_143321158del | deletion | germline | Congenital myotonia, autosomal dominant form; Congenital myotonia, autosomal recessive form; MYOTONIA CONGENITA, AUTOSOMAL DOMINANT; MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE; Myotonia Congenita; Thomsen and Becker disease | Pathogenic | ClinVar | RCV000703658.1, VCV000580190.1 |