nsv3896782
- 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:12,021,502
- Description:GRCh37/hg19 16p12.3-11.2(chr16:18238275-30177240)x3 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 34419 SVs from 145 studies. See in: genome view
Overlapping variant regions from other studies: 34411 SVs from 145 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3896782 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 18,144,418 | 30,165,919 |
| nsv3896782 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 18,238,275 | 30,177,240 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15152163 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000512428.2, VCV000443422.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15152163 | Remapped | Good | NC_000016.10:g.(?_ 18144418)_(3016591 9_?)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 18,144,418 | 30,165,919 |
| nssv15152163 | Submitted genomic | NC_000016.9:g.(?_1 8238275)_(30177240 _?)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 18,238,275 | 30,177,240 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15152163 | GRCh37: NC_000016.9:g.(?_18238275)_(30177240_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000512428.2, VCV000443422.2 | 3 |