nsv5672749
- 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:1,599
- Description:NC_000015.9:g.(?_75188483)_(75190081_?)del AND MPI-congenital disorder of glycosylation
- 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: 112 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 112 SVs from 25 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5672749 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 74,896,142 | 74,897,740 |
| nsv5672749 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 75,188,483 | 75,190,081 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17172185 | deletion | Multiple | Multiple | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib; CDG1B; MPI-CDG; MPI-CDG; See individual phenotypes in OMIM allelic variants | Likely pathogenic | ClinVar | RCV001378106.6, VCV001066970.6 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17172185 | Remapped | Perfect | NC_000015.10:g.(?_ 74896142)_(7489774 0_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 74,896,142 | 74,897,740 |
| nssv17172185 | Submitted genomic | NC_000015.9:g.(?_7 5188483)_(75190081 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 75,188,483 | 75,190,081 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17172185 | GRCh37: NC_000015.9:g.(?_75188483)_(75190081_?)del | deletion | germline | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib; CDG1B; MPI-CDG; MPI-CDG; See individual phenotypes in OMIM allelic variants | Likely pathogenic | ClinVar | RCV001378106.6, VCV001066970.6 |