nsv6312681
- 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:736,330
- Description:NC_000009.11:g.(?_130216807)_(130953136_?)del AND Congenital muscular dystrophy with intellectual disability and severe epilepsy
- Publication(s):Sparks 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: 2610 SVs from 89 studies. See in: genome view
Overlapping variant regions from other studies: 2612 SVs from 89 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6312681 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 127,454,528 | 128,190,857 |
| nsv6312681 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 130,216,807 | 130,953,136 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17972305 | deletion | Multiple | Multiple | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu; CDG1U; Congenital muscular dystrophy with intellectual disability and severe epilepsy; Congenital muscular dystrophy with intellectual disability and severe epilepsy | Pathogenic | ClinVar | RCV001972646.3, VCV001457478.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17972305 | Remapped | Perfect | NC_000009.12:g.(?_ 127454528)_(128190 857_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 127,454,528 | 128,190,857 |
| nssv17972305 | Submitted genomic | NC_000009.11:g.(?_ 130216807)_(130953 136_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 130,216,807 | 130,953,136 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17972305 | GRCh37: NC_000009.11:g.(?_130216807)_(130953136_?)del | deletion | germline | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu; CDG1U; Congenital muscular dystrophy with intellectual disability and severe epilepsy; Congenital muscular dystrophy with intellectual disability and severe epilepsy | Pathogenic | ClinVar | RCV001972646.3, VCV001457478.3 |