nsv4349000
- 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:2,435,427
- Description:GRCh37/hg19 11q13.1-13.2(chr11:65138976-67574402) 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: 7280 SVs from 116 studies. See in: genome view
Overlapping variant regions from other studies: 7278 SVs from 116 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4349000 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 65,371,505 | 67,806,931 |
| nsv4349000 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 65,138,976 | 67,574,402 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15605814 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000767601.1, VCV000625593.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15605814 | Remapped | Perfect | NC_000011.10:g.(?_ 65371505)_(6780693 1_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 65,371,505 | 67,806,931 |
| nssv15605814 | Submitted genomic | NC_000011.9:g.(?_6 5138976)_(67574402 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 65,138,976 | 67,574,402 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15605814 | GRCh37: NC_000011.9:g.(?_65138976)_(67574402_?)dup | copy number gain | de novo | not provided | Pathogenic | ClinVar | RCV000767601.1, VCV000625593.1 |