nsv7096308
- 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:6,710,144
- Description:NC_000022.10:g.(?_35776672)_(42486826_?)dup AND Adenylosuccinate lyase deficiency
- Publication(s):Schaefer 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: 20322 SVs from 127 studies. See in: genome view
Overlapping variant regions from other studies: 20317 SVs from 128 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7096308 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 35,380,679 | 42,090,822 |
| nsv7096308 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 35,776,672 | 42,486,826 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18790989 | duplication | Multiple | Multiple | ADENYLOSUCCINASE DEFICIENCY; ADSLD; Adenylosuccinate lyase deficiency; Adenylosuccinate lyase deficiency | Uncertain significance | ClinVar | RCV003119093.2, VCV002422150.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18790989 | Remapped | Perfect | NC_000022.11:g.(?_ 35380679)_(4209082 2_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 35,380,679 | 42,090,822 |
| nssv18790989 | Submitted genomic | NC_000022.10:g.(?_ 35776672)_(4248682 6_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 35,776,672 | 42,486,826 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18790989 | GRCh37: NC_000022.10:g.(?_35776672)_(42486826_?)dup | duplication | germline | ADENYLOSUCCINASE DEFICIENCY; ADSLD; Adenylosuccinate lyase deficiency; Adenylosuccinate lyase deficiency | Uncertain significance | ClinVar | RCV003119093.2, VCV002422150.3 |