nsv7095670
- 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:24,675
- Description:NC_000019.9:g.(?_55644283)_(55668957_?)dup AND Nemaline myopathy 5
- 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: 235 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 228 SVs from 52 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7095670 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 55,132,915 | 55,157,589 |
| nsv7095670 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 55,644,283 | 55,668,957 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18789605 | duplication | Multiple | Multiple | Amish nemaline myopathy; NEMALINE MYOPATHY 5; NEM5; Nemaline myopathy 5; See individual phenotypes in OMIM allelic variants | Uncertain significance | ClinVar | RCV003113249.1, VCV002424667.5 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18789605 | Remapped | Perfect | NC_000019.10:g.(?_ 55132915)_(5515758 9_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 55,132,915 | 55,157,589 |
| nssv18789605 | Submitted genomic | NC_000019.9:g.(?_5 5644283)_(55668957 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 55,644,283 | 55,668,957 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18789605 | GRCh37: NC_000019.9:g.(?_55644283)_(55668957_?)dup | duplication | germline | Amish nemaline myopathy; NEMALINE MYOPATHY 5; NEM5; Nemaline myopathy 5; See individual phenotypes in OMIM allelic variants | Uncertain significance | ClinVar | RCV003113249.1, VCV002424667.5 |