nsv6310680
- 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:24,082
- Description:NC_000001.10:g.(?_154140413)_(154164494_?)dup AND multiple conditions
- 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: 178 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 187 SVs from 44 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6310680 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 154,167,937 | 154,192,018 |
| nsv6310680 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 154,140,413 | 154,164,494 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17970736 | duplication | Multiple | Multiple | Cap myopathy; Childhood-onset nemaline myopathy; Congenital Fiber-Type Disproportion; Congenital fiber-type disproportion myopathy; Congenital myopathy with fiber type disproportion; Intermediate nemaline myopathy; MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD; NEMALINE MYOPATHY 1; NEM1; Nemaline myopathy 1 | Uncertain significance | ClinVar | RCV001941296.3, VCV001439425.6 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17970736 | Remapped | Perfect | NC_000001.11:g.(?_ 154167937)_(154192 018_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 154,167,937 | 154,192,018 |
| nssv17970736 | Submitted genomic | NC_000001.10:g.(?_ 154140413)_(154164 494_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 154,140,413 | 154,164,494 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17970736 | GRCh37: NC_000001.10:g.(?_154140413)_(154164494_?)dup | duplication | germline | Cap myopathy; Childhood-onset nemaline myopathy; Congenital Fiber-Type Disproportion; Congenital fiber-type disproportion myopathy; Congenital myopathy with fiber type disproportion; Intermediate nemaline myopathy; MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD; NEMALINE MYOPATHY 1; NEM1; Nemaline myopathy 1 | Uncertain significance | ClinVar | RCV001941296.3, VCV001439425.6 |