nsv5381762
- 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:1,734,521
- Description:GRCh37/hg19 9q34.3(chr9:139284464-141018984) AND multiple conditions
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 9089 SVs from 115 studies. See in: genome view
Overlapping variant regions from other studies: 9088 SVs from 115 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5381762 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 136,390,012 | 138,124,532 |
| nsv5381762 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 139,284,464 | 141,018,984 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16867399 | copy number loss | Multiple | Multiple | Aorta coarctation; COARCTATION OF AORTA; CRYPTORCHIDISM, UNILATERAL OR BILATERAL; Coarctation of aorta; Coarctation of aorta; Cryptorchidism; Cryptorchidism; Server error < EMBL-EBI | Pathogenic | ClinVar | RCV001352666.1, VCV001047897.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16867399 | Remapped | Perfect | NC_000009.12:g.(?_ 136390012)_(138124 532_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 136,390,012 | 138,124,532 |
| nssv16867399 | Submitted genomic | NC_000009.11:g.(?_ 139284464)_(141018 984_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 139,284,464 | 141,018,984 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16867399 | GRCh37: NC_000009.11:g.(?_139284464)_(141018984_?)del | copy number loss | de novo | Aorta coarctation; COARCTATION OF AORTA; CRYPTORCHIDISM, UNILATERAL OR BILATERAL; Coarctation of aorta; Coarctation of aorta; Cryptorchidism; Cryptorchidism; Server error < EMBL-EBI | Pathogenic | ClinVar | RCV001352666.1, VCV001047897.1 |