nsv5672911
- 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:6,073
- Description:
NM_000147.5(FUCA1):c.390-95_768+150del AND Fucosidosis
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 99 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 99 SVs from 26 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv5672911 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 23,859,648 | 23,865,720 |
| nsv5672911 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 24,186,138 | 24,192,210 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17171359 | deletion | Multiple | Multiple | FUCOSIDOSIS; Fucosidosis; Fucosidosis | Pathogenic | ClinVar | RCV001376165.3, VCV001065617.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv17171359 | Submitted genomic | NC_000001.11:g.238 59648_23865720del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 23,859,648 | 23,865,720 |
| nssv17171359 | Submitted genomic | NC_000001.10:g.241 86138_24192210del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 24,186,138 | 24,192,210 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17171359 | GRCh37: NC_000001.10:g.24186138_24192210del, GRCh38: NC_000001.11:g.23859648_23865720del | deletion | germline | FUCOSIDOSIS; Fucosidosis; Fucosidosis | Pathogenic | ClinVar | RCV001376165.3, VCV001065617.3 |