nsv4683080
- 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:99
- Description:NC_000003.12:g.(?_49419700)_(49419798_?)dup AND Non-ketotic hyperglycinemia
- Publication(s):Van Hove et al. 2002
- ClinVar: RCV001031540.4
- ClinVar: VCV000830943.7
- GeneReviews: NBK1357
- HP: 0008288
- MONDO: 0011612
- MedGen: C0751748
- OMIM: 238300.0001
- OMIM: 238300.0002
- OMIM: 238300.0003
- OMIM: 238300.0004
- OMIM: 238300.0005
- OMIM: 238300.0006
- OMIM: 238300.0007
- OMIM: 238300.0008
- OMIM: 238300.0009
- OMIM: 238300.0010
- OMIM: 605899
- Orphanet: 407
- PubMed: 20301531
- 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: 87 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 87 SVs from 22 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4683080 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 49,419,700 | 49,419,798 |
| nsv4683080 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 49,457,133 | 49,457,231 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16213363 | duplication | Multiple | Multiple | GLYCINE ENCEPHALOPATHY; GCE; Glycine Encephalopathy; Glycine encephalopathy; Non-ketotic hyperglycinemia; Nonketotic hyperglycinemia; See individual phenotypes in OMIM allelic variants | Likely pathogenic | ClinVar | RCV001031540.4, VCV000830943.7 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16213363 | Remapped | Perfect | NC_000003.12:g.(?_ 49419700)_(4941979 8_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 49,419,700 | 49,419,798 |
| nssv16213363 | Submitted genomic | NC_000003.11:g.(?_ 49457133)_(4945723 1_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 49,457,133 | 49,457,231 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16213363 | GRCh37: NC_000003.11:g.(?_49457133)_(49457231_?)dup | duplication | germline | GLYCINE ENCEPHALOPATHY; GCE; Glycine Encephalopathy; Glycine encephalopathy; Non-ketotic hyperglycinemia; Nonketotic hyperglycinemia; See individual phenotypes in OMIM allelic variants | Likely pathogenic | ClinVar | RCV001031540.4, VCV000830943.7 |