nsv6311268
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:4,293
- Description:NC_000022.10:g.(?_32870990)_(32875282_?)dup AND Parkinsonian-pyramidal syndrome
- Publication(s):Berardelli et al. 2013, Farlow et al. 2004
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 64 SVs from 19 studies. See in: genome view
Overlapping variant regions from other studies: 64 SVs from 19 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nsv6311268 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 32,475,003 | 32,479,295 |
nsv6311268 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 32,870,990 | 32,875,282 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv17975122 | duplication | Multiple | Multiple | PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK15; Parkinson disease 15; Parkinsonian-pyramidal syndrome; See individual phenotypes in OMIM allelic variants | Uncertain significance | ClinVar | RCV001939145.2, VCV001429863.2 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17975122 | Remapped | Perfect | NC_000022.11:g.(?_ 32475003)_(3247929 5_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 32,475,003 | 32,479,295 |
nssv17975122 | Submitted genomic | NC_000022.10:g.(?_ 32870990)_(3287528 2_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 32,870,990 | 32,875,282 |
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 |
---|---|---|---|---|---|---|---|
nssv17975122 | GRCh37: NC_000022.10:g.(?_32870990)_(32875282_?)dup | duplication | germline | PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK15; Parkinson disease 15; Parkinsonian-pyramidal syndrome; See individual phenotypes in OMIM allelic variants | Uncertain significance | ClinVar | RCV001939145.2, VCV001429863.2 |