nsv7095749
- 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:252,489
- Description:NC_000001.10:g.(?_120277237)_(120529725_?)dup AND PHGDH deficiency
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 539 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 528 SVs from 59 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7095749 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 119,734,614 | 119,987,102 |
| nsv7095749 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 120,277,237 | 120,529,725 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18788592 | duplication | Multiple | Multiple | PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY; PHGDHD; Phosphoglycerate dehydrogenase deficiency | Uncertain significance | ClinVar | RCV003109545.1, VCV002425621.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18788592 | Remapped | Perfect | NC_000001.11:g.(?_ 119734614)_(119987 102_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 119,734,614 | 119,987,102 |
| nssv18788592 | Submitted genomic | NC_000001.10:g.(?_ 120277237)_(120529 725_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 120,277,237 | 120,529,725 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18788592 | GRCh37: NC_000001.10:g.(?_120277237)_(120529725_?)dup | duplication | germline | PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY; PHGDHD; Phosphoglycerate dehydrogenase deficiency | Uncertain significance | ClinVar | RCV003109545.1, VCV002425621.2 |