nsv3882194
- 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:873
- Description:NC_000001.11:g.(?_154191166)_(154192038_?)del 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: 97 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 106 SVs from 22 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3882194 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 154,191,166 | 154,192,038 |
| nsv3882194 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 154,163,642 | 154,164,514 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15154829 | deletion | 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 | RCV000707976.2, VCV000583697.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15154829 | Submitted genomic | NC_000001.11:g.(?_ 154191166)_(154192 038_?)del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 154,191,166 | 154,192,038 |
| nssv15154829 | Submitted genomic | NC_000001.10:g.(?_ 154163642)_(154164 514_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 154,163,642 | 154,164,514 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15154829 | GRCh37: NC_000001.10:g.(?_154163642)_(154164514_?)del, GRCh38: NC_000001.11:g.(?_154191166)_(154192038_?)del | deletion | 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 | RCV000707976.2, VCV000583697.2 |