nsv7094350
- 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:4,427,463
- Description:NC_000014.8:g.(?_90429459)_(94856914_?)dup AND Achondrogenesis, type IA
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 11535 SVs from 109 studies. See in: genome view
Overlapping variant regions from other studies: 11539 SVs from 109 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7094350 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 89,963,115 | 94,390,577 |
| nsv7094350 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 90,429,459 | 94,856,914 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18789763 | duplication | Multiple | Multiple | ACHONDROGENESIS, TYPE IA; ACG1A; Achondrogenesis; Achondrogenesis type 1A; Achondrogenesis, type IA | Uncertain significance | ClinVar | RCV003113413.2, VCV002425046.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18789763 | Remapped | Perfect | NC_000014.9:g.(?_8 9963115)_(94390577 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 89,963,115 | 94,390,577 |
| nssv18789763 | Submitted genomic | NC_000014.8:g.(?_9 0429459)_(94856914 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 90,429,459 | 94,856,914 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18789763 | GRCh37: NC_000014.8:g.(?_90429459)_(94856914_?)dup | duplication | germline | ACHONDROGENESIS, TYPE IA; ACG1A; Achondrogenesis; Achondrogenesis type 1A; Achondrogenesis, type IA | Uncertain significance | ClinVar | RCV003113413.2, VCV002425046.3 |