nsv7093985
- 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:441,046
- Description:NC_000013.10:g.(?_100741375)_(101182420_?)del AND Propionic acidemia
- Publication(s):Shchelochkov et al. 2012
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 1111 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 1111 SVs from 68 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7093985 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 100,089,121 | 100,530,166 |
| nsv7093985 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 100,741,375 | 101,182,420 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18788913 | deletion | Multiple | Multiple | PROPIONIC ACIDEMIA; Propionic Acidemia; Propionic acidemia; Propionic acidemia; Propionic acidemia | Pathogenic | ClinVar | RCV003110930.2, VCV002422797.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18788913 | Remapped | Perfect | NC_000013.11:g.(?_ 100089121)_(100530 166_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 100,089,121 | 100,530,166 |
| nssv18788913 | Submitted genomic | NC_000013.10:g.(?_ 100741375)_(101182 420_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 100,741,375 | 101,182,420 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18788913 | GRCh37: NC_000013.10:g.(?_100741375)_(101182420_?)del | deletion | germline | PROPIONIC ACIDEMIA; Propionic Acidemia; Propionic acidemia; Propionic acidemia; Propionic acidemia | Pathogenic | ClinVar | RCV003110930.2, VCV002422797.2 |