nsv4450933
- 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:85,307
- Description:NC_000010.11:g.(?_103089662)_(103174968_?)del AND Hereditary spastic paraplegia 45
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 241 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 241 SVs from 38 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv4450933 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000010.11 | Chr10 | 103,089,662 | 103,174,968 |
| nsv4450933 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 104,849,419 | 104,934,725 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15771570 | 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 | RCV000796124.3, VCV000642627.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15771570 | Submitted genomic | NC_000010.11:g.(?_ 103089662)_(103174 968_?)del | GRCh38 (hg38) | NC_000010.11 | Chr10 | 103,089,662 | 103,174,968 |
| nssv15771570 | Submitted genomic | NC_000010.10:g.(?_ 104849419)_(104934 725_?)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 104,849,419 | 104,934,725 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15771570 | GRCh37: NC_000010.10:g.(?_104849419)_(104934725_?)del, GRCh38: NC_000010.11:g.(?_103089662)_(103174968_?)del | 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 | RCV000796124.3, VCV000642627.3 |