nsv3883718
- 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:1,966
- Description:NM_001351169.2(NT5C2):c.771+573_814-298del AND Hereditary spastic paraplegia 45
- Publication(s):Darvish et al. 2017
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 54 SVs from 16 studies. See in: genome view
Overlapping variant regions from other studies: 54 SVs from 16 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv3883718 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000010.11 | Chr10 | 103,094,753 | 103,096,718 |
| nsv3883718 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 104,854,510 | 104,856,475 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15131067 | deletion | Multiple | Multiple | Autosomal recessive spastic paraplegia type 45; SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE; SPG45; See individual phenotypes in OMIM allelic variants; Spastic paraplegia 45, autosomal recessive | Pathogenic | ClinVar | RCV000656434.1, VCV000375572.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv15131067 | Submitted genomic | NC_000010.11:g.103 094753_103096718de l | GRCh38 (hg38) | NC_000010.11 | Chr10 | 103,094,753 | 103,096,718 |
| nssv15131067 | Submitted genomic | NC_000010.10:g.104 854510_104856475de l | GRCh37 (hg19) | NC_000010.10 | Chr10 | 104,854,510 | 104,856,475 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15131067 | GRCh37: NC_000010.10:g.104854510_104856475del, GRCh38: NC_000010.11:g.103094753_103096718del | deletion | germline | Autosomal recessive spastic paraplegia type 45; SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE; SPG45; See individual phenotypes in OMIM allelic variants; Spastic paraplegia 45, autosomal recessive | Pathogenic | ClinVar | RCV000656434.1, VCV000375572.1 |