nsv3904593
- 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:90,188,781
- Description:GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)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: 250713 SVs from 160 studies. See in: genome view
Overlapping variant regions from other studies: 249717 SVs from 160 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3904593 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 19,193 | 90,207,973 |
| nsv3904593 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 69,193 | 90,274,381 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15148703 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000446684.3, VCV000395502.3 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15148703 | Remapped | Good | NC_000016.10:g.(?_ 19193)_(90207973_? )dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 19,193 | 90,207,973 |
| nssv15148703 | Submitted genomic | NC_000016.9:g.(?_6 9193)_(90274381_?) dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 69,193 | 90,274,381 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15148703 | GRCh37: NC_000016.9:g.(?_69193)_(90274381_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000446684.3, VCV000395502.3 | 3 |