nsv4457372
- 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:20,930,378
- Description:GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)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: 69970 SVs from 138 studies. See in: genome view
Overlapping variant regions from other studies: 69993 SVs from 138 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4457372 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 27,780,198 | 48,710,575 |
| nsv4457372 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 28,271,106 | 49,213,832 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15777271 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000845733.2, VCV000685025.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15777271 | Remapped | Good | NC_000019.10:g.(?_ 27780198)_(4871057 5_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 27,780,198 | 48,710,575 |
| nssv15777271 | Submitted genomic | NC_000019.9:g.(?_2 8271106)_(49213832 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 28,271,106 | 49,213,832 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15777271 | GRCh37: NC_000019.9:g.(?_28271106)_(49213832_?)dup | copy number gain | unknown | not provided | Pathogenic | ClinVar | RCV000845733.2, VCV000685025.2 | 3 |