nsv4349045
- 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:18,204,633
- Description:GRCh37/hg19 11q23.3-25(chr11:116700253-134904063) 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: 47637 SVs from 127 studies. See in: genome view
Overlapping variant regions from other studies: 47654 SVs from 128 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4349045 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 116,829,537 | 135,034,169 |
| nsv4349045 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 116,700,253 | 134,904,063 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15606089 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000767816.1, VCV000625808.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15606089 | Remapped | Good | NC_000011.10:g.(?_ 116829537)_(135034 169_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 116,829,537 | 135,034,169 |
| nssv15606089 | Submitted genomic | NC_000011.9:g.(?_1 16700253)_(1349040 63_?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 116,700,253 | 134,904,063 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15606089 | GRCh37: NC_000011.9:g.(?_116700253)_(134904063_?)dup | copy number gain | germline | not provided | Pathogenic | ClinVar | RCV000767816.1, VCV000625808.1 |