nsv6312421
- 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:202,106
- Description:NC_000007.13:g.(?_107002458)_(107204434_?)del AND COG5-congenital disorder of glycosylation
- Publication(s):Sparks et al. 2005
- ClinVar: RCV001983028.2
- ClinVar: VCV001460265.2
- MONDO: 0013325
- MedGen: C3150876
- OMIM: 606821.0001
- OMIM: 606821.0002
- OMIM: 606821.0003
- OMIM: 606821.0004
- OMIM: 606821.0005
- OMIM: 606821.0006
- OMIM: 606821.0007
- OMIM: 606821.0008
- OMIM: 606821.0009
- OMIM: 606821.0010
- OMIM: 606821.0011
- OMIM: 613612
- Orphanet: 263487
- PubMed: 20301507
- 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: 474 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 274 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 474 SVs from 66 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6312421 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 107,362,013 | 107,563,989 |
| nsv6312421 | Remapped | Good | GRCh38.p12 | PATCHES | Second Pass | NW_017852930.1 | Chr7|NW_01 7852930.1 | 207,539 | 409,644 |
| nsv6312421 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 107,002,458 | 107,204,434 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17972702 | deletion | Multiple | Multiple | COG5-CDG; CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi; CDG2I; Congenital disorder of glycosylation type 2i; See individual phenotypes in OMIM allelic variants | Pathogenic | ClinVar | RCV001983028.2, VCV001460265.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17972702 | Remapped | Good | NW_017852930.1:g.( ?_207539)_(409644_ ?)del | GRCh38.p12 | Second Pass | NW_017852930.1 | Chr7|NW_01 7852930.1 | 207,539 | 409,644 |
| nssv17972702 | Remapped | Perfect | NC_000007.14:g.(?_ 107362013)_(107563 989_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 107,362,013 | 107,563,989 |
| nssv17972702 | Submitted genomic | NC_000007.13:g.(?_ 107002458)_(107204 434_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 107,002,458 | 107,204,434 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17972702 | GRCh37: NC_000007.13:g.(?_107002458)_(107204434_?)del | deletion | germline | COG5-CDG; CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi; CDG2I; Congenital disorder of glycosylation type 2i; See individual phenotypes in OMIM allelic variants | Pathogenic | ClinVar | RCV001983028.2, VCV001460265.2 |