nsv6289927
- 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:30,649,287
- Description:NC_000011.9:g.104288964_134937416dup AND Distal trisomy 11q
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 77330 SVs from 133 studies. See in: genome view
Overlapping variant regions from other studies: 77355 SVs from 134 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6289927 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 104,418,236 | 135,067,522 |
| nsv6289927 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 104,288,964 | 134,937,416 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17955616 | duplication | Multiple | Multiple | Distal trisomy 11q | Pathogenic | ClinVar | RCV001250234.1, VCV000973579.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17955616 | Remapped | Good | NC_000011.10:g.104 418236_135067522du p | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 104,418,236 | 135,067,522 |
| nssv17955616 | Submitted genomic | NC_000011.9:g.1042 88964_134937416dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 104,288,964 | 134,937,416 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17955616 | GRCh37: NC_000011.9:g.104288964_134937416dup | duplication | de novo | Distal trisomy 11q | Pathogenic | ClinVar | RCV001250234.1, VCV000973579.1 |