nsv5673655
- 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:4,968
- Description:NM_001205254.2(OCLN):c.52_891del (p.Lys18_Trp297del) AND Pseudo-TORCH syndrome 1
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 123 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 123 SVs from 42 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv5673655 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000005.10 | Chr5 | 69,509,142 | 69,514,109 |
| nsv5673655 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 68,804,969 | 68,809,936 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17172028 | deletion | Multiple | Multiple | Band-like calcification with simplified gyration and polymicrogyria; Congenital intrauterine infection-like syndrome; PSEUDO-TORCH SYNDROME 1; PTORCH1 | Pathogenic | ClinVar | RCV001376164.3, VCV001065616.4 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv17172028 | Submitted genomic | NC_000005.10:g.695 09142_69514109del | GRCh38 (hg38) | NC_000005.10 | Chr5 | 69,509,142 | 69,514,109 |
| nssv17172028 | Submitted genomic | NC_000005.9:g.6880 4969_68809936del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 68,804,969 | 68,809,936 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17172028 | GRCh37: NC_000005.9:g.68804969_68809936del, GRCh38: NC_000005.10:g.69509142_69514109del | deletion | germline | Band-like calcification with simplified gyration and polymicrogyria; Congenital intrauterine infection-like syndrome; PSEUDO-TORCH SYNDROME 1; PTORCH1 | Pathogenic | ClinVar | RCV001376164.3, VCV001065616.4 |