nsv3907578
- 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:429,790
- Description:GRCh37/hg19 19q13.32(chr19:47450549-47880338)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: 1651 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 1652 SVs from 81 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3907578 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 46,947,292 | 47,377,081 |
| nsv3907578 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 47,450,549 | 47,880,338 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15140477 | copy number gain | Multiple | Multiple | See cases | Likely pathogenic | ClinVar | RCV000447405.3, VCV000393971.3 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15140477 | Remapped | Perfect | NC_000019.10:g.(?_ 46947292)_(4737708 1_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 46,947,292 | 47,377,081 |
| nssv15140477 | Submitted genomic | NC_000019.9:g.(?_4 7450549)_(47880338 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 47,450,549 | 47,880,338 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15140477 | GRCh37: NC_000019.9:g.(?_47450549)_(47880338_?)dup | copy number gain | not provided | See cases | Likely pathogenic | ClinVar | RCV000447405.3, VCV000393971.3 | 3 |