nsv5673729
- 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:1,836,506
- Description:NC_000003.11:g.(?_48507870)_(50340407_?)del AND multiple conditions
- Publication(s):Crow et al. 2005, de Boer et al. 2019
- ClinVar: RCV001380369.4
- ClinVar: VCV001068732.5
- GeneReviews: NBK1475
- GeneReviews: NBK546576
- MONDO: 0008641
- MONDO: 0009165
- MONDO: 0012500
- MedGen: C0024145
- MedGen: C0796126
- MedGen: C1860518
- OMIM: 192315
- OMIM: 225750
- OMIM: 610448
- Orphanet: 3421
- Orphanet: 51
- Orphanet: 63261
- Orphanet: 71291
- PubMed: 20301648
- PubMed: 31536185
- 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: 5347 SVs from 98 studies. See in: genome view
Overlapping variant regions from other studies: 5331 SVs from 98 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5673729 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 48,466,471 | 50,302,976 |
| nsv5673729 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 48,507,870 | 50,340,407 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17173210 | deletion | Multiple | Multiple | AICARDI-GOUTIERES SYNDROME 1; AGS1; Aicardi Goutieres syndrome 1; Aicardi-Goutières Syndrome; Aicardi-Goutières syndrome; CHILBLAIN LUPUS 1; CHBL1; Cerebroretinal vasculopathy; Chilblain lupus 1; HERNS syndrome; Hereditary vascular retinopathy; Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations; VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY; RVCL; Vasculopathy, retinal, with cerebral leukodystrophy | Pathogenic | ClinVar | RCV001380369.4, VCV001068732.5 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17173210 | Remapped | Good | NC_000003.12:g.(?_ 48466471)_(5030297 6_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 48,466,471 | 50,302,976 |
| nssv17173210 | Submitted genomic | NC_000003.11:g.(?_ 48507870)_(5034040 7_?)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 48,507,870 | 50,340,407 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17173210 | GRCh37: NC_000003.11:g.(?_48507870)_(50340407_?)del | deletion | germline | AICARDI-GOUTIERES SYNDROME 1; AGS1; Aicardi Goutieres syndrome 1; Aicardi-Goutières Syndrome; Aicardi-Goutières syndrome; CHILBLAIN LUPUS 1; CHBL1; Cerebroretinal vasculopathy; Chilblain lupus 1; HERNS syndrome; Hereditary vascular retinopathy; Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations; VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY; RVCL; Vasculopathy, retinal, with cerebral leukodystrophy | Pathogenic | ClinVar | RCV001380369.4, VCV001068732.5 |