nsv3890862
- 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:8,597,860
- Description:GRCh37/hg19 19q13.33-13.43(chr19:50489390-59095359)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: 39028 SVs from 128 studies. See in: genome view
Overlapping variant regions from other studies: 36926 SVs from 129 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3890862 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 49,986,133 | 58,583,992 |
| nsv3890862 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 50,489,390 | 59,095,359 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15147841 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000445925.3, VCV000394342.3 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15147841 | Remapped | Good | NC_000019.10:g.(?_ 49986133)_(5858399 2_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 49,986,133 | 58,583,992 |
| nssv15147841 | Submitted genomic | NC_000019.9:g.(?_5 0489390)_(59095359 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 50,489,390 | 59,095,359 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15147841 | GRCh37: NC_000019.9:g.(?_50489390)_(59095359_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000445925.3, VCV000394342.3 | 3 |