nsv4675832
- 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:14,196,746
- Description:GRCh37/hg19 11q23.3-25(chr11:120742540-134938470)x1 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: 37446 SVs from 126 studies. See in: genome view
Overlapping variant regions from other studies: 37450 SVs from 127 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4675832 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 120,871,831 | 135,068,576 |
| nsv4675832 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 120,742,540 | 134,938,470 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16208319 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001006452.1, VCV000815475.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16208319 | Remapped | Good | NC_000011.10:g.(?_ 120871831)_(135068 576_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 120,871,831 | 135,068,576 |
| nssv16208319 | Submitted genomic | NC_000011.9:g.(?_1 20742540)_(1349384 70_?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 120,742,540 | 134,938,470 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16208319 | GRCh37: NC_000011.9:g.(?_120742540)_(134938470_?)del | copy number loss | germline | not provided | Pathogenic | ClinVar | RCV001006452.1, VCV000815475.1 | 1 |