nsv3874063
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:16,794
- Description:NC_000016.10:g.(?_5080946)_(5097739_?)del AND ALG1-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: 186 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 186 SVs from 47 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3874063 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000016.10 | Chr16 | 5,080,946 | 5,097,739 |
| nsv3874063 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 5,130,947 | 5,147,740 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15144431 | deletion | Multiple | Multiple | ALG1-CDG; CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik; CDG1K; Congenital disorder of glycosylation type 1K; See individual phenotypes in OMIM allelic variants | Likely pathogenic | ClinVar | RCV000708294.4, VCV000584089.4 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15144431 | Submitted genomic | NC_000016.10:g.(?_ 5080946)_(5097739_ ?)del | GRCh38 (hg38) | NC_000016.10 | Chr16 | 5,080,946 | 5,097,739 |
| nssv15144431 | Submitted genomic | NC_000016.9:g.(?_5 130947)_(5147740_? )del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 5,130,947 | 5,147,740 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15144431 | GRCh37: NC_000016.9:g.(?_5130947)_(5147740_?)del, GRCh38: NC_000016.10:g.(?_5080946)_(5097739_?)del | deletion | germline | ALG1-CDG; CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik; CDG1K; Congenital disorder of glycosylation type 1K; See individual phenotypes in OMIM allelic variants | Likely pathogenic | ClinVar | RCV000708294.4, VCV000584089.4 |