nsv4676346
- 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:3,240,363
- Description:GRCh37/hg19 19p13.3(chr19:260911-3501271)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: 21039 SVs from 115 studies. See in: genome view
Overlapping variant regions from other studies: 21039 SVs from 115 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4676346 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 260,911 | 3,501,273 |
| nsv4676346 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 260,911 | 3,501,271 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16208547 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001007025.1, VCV000816059.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16208547 | Remapped | Perfect | NC_000019.10:g.(?_ 260911)_(3501273_? )dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 260,911 | 3,501,273 |
| nssv16208547 | Submitted genomic | NC_000019.9:g.(?_2 60911)_(3501271_?) dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 260,911 | 3,501,271 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16208547 | GRCh37: NC_000019.9:g.(?_260911)_(3501271_?)dup | copy number gain | germline | not provided | Pathogenic | ClinVar | RCV001007025.1, VCV000816059.1 | 3 |