nsv3892294
- 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:9,452,350
- Description:GRCh37/hg19 11p15.5-15.4(chr11:230615-9704511)x3 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: 35923 SVs from 140 studies. See in: genome view
Overlapping variant regions from other studies: 35575 SVs from 140 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3892294 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 230,615 | 9,682,964 |
| nsv3892294 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 230,615 | 9,704,511 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15153876 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000683369.1, VCV000563880.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15153876 | Remapped | Good | NC_000011.10:g.(?_ 230615)_(9682964_? )dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 230,615 | 9,682,964 |
| nssv15153876 | Submitted genomic | NC_000011.9:g.(?_2 30615)_(9704511_?) dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 230,615 | 9,704,511 |
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 | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15153876 | GRCh37: NC_000011.9:g.(?_230615)_(9704511_?)dup | copy number gain | germline | not provided | Pathogenic | ClinVar | RCV000683369.1, VCV000563880.1 | 3 |