nsv4453687
- 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:888
- Description:NC_000001.11:g.(?_16991714)_(16992601_?)del AND multiple conditions
- Publication(s):Berardelli et al. 2013, Farlow et al. 2004, Gregory et al. 2013
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 101 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 101 SVs from 33 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv4453687 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 16,991,714 | 16,992,601 |
| nsv4453687 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 17,318,209 | 17,319,096 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15770795 | deletion | Multiple | Multiple | ATP13A2 related juvenile neuronal ceroid lipofuscinosis; Autosomal recessive spastic paraplegia type 78; KUFOR-RAKEB SYNDROME; KRS; Kufor-Rakeb syndrome; Parkinson disease 9; SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78 | Pathogenic | ClinVar | RCV000817928.6, VCV000660676.6 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15770795 | Submitted genomic | NC_000001.11:g.(?_ 16991714)_(1699260 1_?)del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 16,991,714 | 16,992,601 |
| nssv15770795 | Submitted genomic | NC_000001.10:g.(?_ 17318209)_(1731909 6_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 17,318,209 | 17,319,096 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15770795 | GRCh37: NC_000001.10:g.(?_17318209)_(17319096_?)del, GRCh38: NC_000001.11:g.(?_16991714)_(16992601_?)del | deletion | germline | ATP13A2 related juvenile neuronal ceroid lipofuscinosis; Autosomal recessive spastic paraplegia type 78; KUFOR-RAKEB SYNDROME; KRS; Kufor-Rakeb syndrome; Parkinson disease 9; SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78 | Pathogenic | ClinVar | RCV000817928.6, VCV000660676.6 |