nsv5673505
- 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:194,326
- Description:NC_000005.9:g.(?_1253823)_(1448148_?)del AND Parkinsonism-dystonia, infantile
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 1577 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 447 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 1577 SVs from 82 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 |
---|---|---|---|---|---|---|---|---|---|
nsv5673505 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 1,253,708 | 1,448,033 |
nsv5673505 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187547.1 | Chr5|NT_18 7547.1 | 61,740 | 195,710 |
nsv5673505 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 1,253,823 | 1,448,148 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv17172863 | deletion | Multiple | Multiple | Infantile Parkinsonism-dystonia; PARKINSONISM-DYSTONIA, INFANTILE, 1; PKDYS1; Parkinsonism-dystonia, infantile | Pathogenic | ClinVar | RCV001384881.1, VCV001072228.1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17172863 | Remapped | Pass | NT_187547.1:g.(?_6 1740)_(195710_?)de l | GRCh38.p12 | Second Pass | NT_187547.1 | Chr5|NT_18 7547.1 | 61,740 | 195,710 |
nssv17172863 | Remapped | Perfect | NC_000005.10:g.(?_ 1253708)_(1448033_ ?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 1,253,708 | 1,448,033 |
nssv17172863 | Submitted genomic | NC_000005.9:g.(?_1 253823)_(1448148_? )del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 1,253,823 | 1,448,148 |
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 |
---|---|---|---|---|---|---|---|
nssv17172863 | GRCh37: NC_000005.9:g.(?_1253823)_(1448148_?)del | deletion | germline | Infantile Parkinsonism-dystonia; PARKINSONISM-DYSTONIA, INFANTILE, 1; PKDYS1; Parkinsonism-dystonia, infantile | Pathogenic | ClinVar | RCV001384881.1, VCV001072228.1 |