nsv5674037
- 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:9,470
- Description:NM_177924.5(ASAH1):c.125+211_383-1330del AND Farber lipogranulomatosis
- Publication(s):Alves et al. 2013, Dyment et al. 2018
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 178 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 178 SVs from 34 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv5674037 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000008.11 | Chr8 | 18,065,861 | 18,075,330 |
| nsv5674037 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 17,923,370 | 17,932,839 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15153128 | deletion | Multiple | Multiple | ASAH1-Related Disorders; FARBER LIPOGRANULOMATOSIS; FRBRL; Farber disease; Farber lipogranulomatosis | Pathogenic | ClinVar | RCV000656522.5, VCV000545564.5 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv15153128 | Submitted genomic | NC_000008.11:g.180 65861_18075330del | GRCh38 (hg38) | NC_000008.11 | Chr8 | 18,065,861 | 18,075,330 |
| nssv15153128 | Submitted genomic | NC_000008.10:g.179 23370_17932839del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 17,923,370 | 17,932,839 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15153128 | GRCh37: NC_000008.10:g.17923370_17932839del, GRCh38: NC_000008.11:g.18065861_18075330del | deletion | see ClinVar for details | ASAH1-Related Disorders; FARBER LIPOGRANULOMATOSIS; FRBRL; Farber disease; Farber lipogranulomatosis | Pathogenic | ClinVar | RCV000656522.5, VCV000545564.5 |