nsv3904885
- 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:58,530,895
- Description:GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 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: 221719 SVs from 145 studies. See in: genome view
Overlapping variant regions from other studies: 219571 SVs from 146 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3904885 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 68,029 | 58,598,923 |
| nsv3904885 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 68,029 | 59,110,290 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15173860 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000752439.2, VCV000615803.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15173860 | Remapped | Good | NC_000019.10:g.(?_ 68029)_(58598923_? )dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 68,029 | 58,598,923 |
| nssv15173860 | Submitted genomic | NC_000019.9:g.(?_6 8029)_(59110290_?) dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 68,029 | 59,110,290 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15173860 | GRCh37: NC_000019.9:g.(?_68029)_(59110290_?)dup | copy number gain | unknown | not provided | Pathogenic | ClinVar | RCV000752439.2, VCV000615803.2 | 3 |