nsv7097206
- 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:1,054,514
- Description:NC_000003.11:g.(?_52109903)_(53164416_?)del AND RFT1-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: 2791 SVs from 101 studies. See in: genome view
Overlapping variant regions from other studies: 2787 SVs from 101 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7097206 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 52,075,887 | 53,130,400 |
| nsv7097206 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 52,109,903 | 53,164,416 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18787961 | deletion | Multiple | Multiple | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE In; CDG1N; RFT1-CDG; RFT1-congenital disorder of glycosylation | Uncertain significance | ClinVar | RCV003122979.2, VCV002427145.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18787961 | Remapped | Perfect | NC_000003.12:g.(?_ 52075887)_(5313040 0_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 52,075,887 | 53,130,400 |
| nssv18787961 | Submitted genomic | NC_000003.11:g.(?_ 52109903)_(5316441 6_?)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 52,109,903 | 53,164,416 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18787961 | GRCh37: NC_000003.11:g.(?_52109903)_(53164416_?)del | deletion | germline | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE In; CDG1N; RFT1-CDG; RFT1-congenital disorder of glycosylation | Uncertain significance | ClinVar | RCV003122979.2, VCV002427145.2 |