nsv4349032
- 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:3,479,465
- Description:GRCh37/hg19 11q24.2-24.3(chr11:126809705-130289168) AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 8847 SVs from 103 studies. See in: genome view
Overlapping variant regions from other studies: 8847 SVs from 103 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4349032 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 126,939,809 | 130,419,273 |
| nsv4349032 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 126,809,705 | 130,289,168 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15605782 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000767568.1, VCV000625560.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15605782 | Remapped | Perfect | NC_000011.10:g.(?_ 126939809)_(130419 273_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 126,939,809 | 130,419,273 |
| nssv15605782 | Submitted genomic | NC_000011.9:g.(?_1 26809705)_(1302891 68_?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 126,809,705 | 130,289,168 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15605782 | GRCh37: NC_000011.9:g.(?_126809705)_(130289168_?)del | copy number loss | germline | not provided | Pathogenic | ClinVar | RCV000767568.1, VCV000625560.1 |