nsv4681157
- 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:858,473
- Description:NC_000009.12:g.(?_130664644)_(131523116_?)dup AND multiple conditions
- ClinVar: RCV001031547.1
- ClinVar: VCV000830950.1
- MONDO: 0000171
- MONDO: 0012248
- MONDO: 0013159
- MedGen: C0265221
- MedGen: C1836373
- MedGen: C5436962
- OMIM: 607423.0005
- OMIM: 607423.0006
- OMIM: 607423.0007
- OMIM: 607423.0008
- OMIM: 607423.0009
- OMIM: 607423.0011
- OMIM: 607423.0012
- OMIM: 607423.0013
- OMIM: 607423.0014
- OMIM: 607423.0019
- OMIM: 607423.0020
- OMIM: 609308
- OMIM: 613155
- OMIM: PS236670
- Orphanet: 86812
- Orphanet: 899
- Overlapping Genes
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 3194 SVs from 102 studies. See in: genome view
Overlapping variant regions from other studies: 3194 SVs from 102 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4681157 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 130,664,644 | 131,523,116 |
| nsv4681157 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 133,540,031 | 134,398,503 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16211907 | duplication | Multiple | Multiple | Autosomal recessive limb-girdle muscular dystrophy type 2K; Limb-girdle muscular dystrophy-dystroglycanopathy, type C1; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1; MDDGB1; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1; MDDGC1; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Muscular dystrophy-dystroglycanopathy, type A; See individual phenotypes in OMIM allelic variants; Walker-Warburg congenital muscular dystrophy; Walker-Warburg syndrome | Uncertain significance | ClinVar | RCV001031547.1, VCV000830950.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16211907 | Remapped | Perfect | NC_000009.12:g.(?_ 130664644)_(131523 116_?)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 130,664,644 | 131,523,116 |
| nssv16211907 | Submitted genomic | NC_000009.11:g.(?_ 133540031)_(134398 503_?)dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 133,540,031 | 134,398,503 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16211907 | GRCh37: NC_000009.11:g.(?_133540031)_(134398503_?)dup | duplication | germline | Autosomal recessive limb-girdle muscular dystrophy type 2K; Limb-girdle muscular dystrophy-dystroglycanopathy, type C1; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1; MDDGB1; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1; MDDGC1; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Muscular dystrophy-dystroglycanopathy, type A; See individual phenotypes in OMIM allelic variants; Walker-Warburg congenital muscular dystrophy; Walker-Warburg syndrome | Uncertain significance | ClinVar | RCV001031547.1, VCV000830950.1 |