nsv7097600
- 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:122
- Description:NC_000007.13:g.(?_106964865)_(106964986_?)del AND COG5-congenital disorder of glycosylation
- Publication(s):Sparks et al. 2005
- ClinVar: RCV003109500.2
- ClinVar: VCV002425576.2
- 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: 102 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 19 SVs from 14 studies. See in: genome view
Overlapping variant regions from other studies: 102 SVs from 28 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7097600 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 107,324,420 | 107,324,541 |
| nsv7097600 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_017852930.1 | Chr7|NW_01 7852930.1 | 169,942 | 170,063 |
| nsv7097600 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 106,964,865 | 106,964,986 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18788548 | 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 | RCV003109500.2, VCV002425576.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18788548 | Remapped | Perfect | NW_017852930.1:g.( ?_169942)_(170063_ ?)del | GRCh38.p12 | Second Pass | NW_017852930.1 | Chr7|NW_01 7852930.1 | 169,942 | 170,063 |
| nssv18788548 | Remapped | Perfect | NC_000007.14:g.(?_ 107324420)_(107324 541_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 107,324,420 | 107,324,541 |
| nssv18788548 | Submitted genomic | NC_000007.13:g.(?_ 106964865)_(106964 986_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 106,964,865 | 106,964,986 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18788548 | GRCh37: NC_000007.13:g.(?_106964865)_(106964986_?)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 | RCV003109500.2, VCV002425576.2 |