nsv4450468
- 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:1,634
- Description:NC_000007.13:g.(?_143047445)_(143049078_?)dup 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: 80 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 80 SVs from 20 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv4450468 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 143,350,352 | 143,351,985 |
| nsv4450468 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 143,047,445 | 143,049,078 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15770452 | duplication | 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 | Uncertain significance | ClinVar | RCV000807247.5, VCV000651821.5 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15770452 | Submitted genomic | NC_000007.14:g.(?_ 143350352)_(143351 985_?)dup | GRCh38 (hg38) | NC_000007.14 | Chr7 | 143,350,352 | 143,351,985 |
| nssv15770452 | Submitted genomic | NC_000007.13:g.(?_ 143047445)_(143049 078_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 143,047,445 | 143,049,078 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15770452 | GRCh37: NC_000007.13:g.(?_143047445)_(143049078_?)dup, GRCh38: NC_000007.14:g.(?_143350352)_(143351985_?)dup | duplication | 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 | Uncertain significance | ClinVar | RCV000807247.5, VCV000651821.5 |