nsv3890584
- 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:6,501,983
- Description:GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)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: 28437 SVs from 128 studies. See in: genome view
Overlapping variant regions from other studies: 28393 SVs from 128 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3890584 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 3,120,162 | 9,622,144 |
| nsv3890584 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 3,120,160 | 9,732,820 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15155593 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000684096.1, VCV000564607.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15155593 | Remapped | Good | NC_000019.10:g.(?_ 3120162)_(9622144_ ?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 3,120,162 | 9,622,144 |
| nssv15155593 | Submitted genomic | NC_000019.9:g.(?_3 120160)_(9732820_? )dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 3,120,160 | 9,732,820 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15155593 | GRCh37: NC_000019.9:g.(?_3120160)_(9732820_?)dup | copy number gain | germline | not provided | Pathogenic | ClinVar | RCV000684096.1, VCV000564607.1 | 3 |