nsv4729813
- 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:258,236
- Description:GRCh37/hg19 19q13.43(chr19:58687912-58946147)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: 969 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 971 SVs from 71 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4729813 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 58,176,545 | 58,434,780 |
| nsv4729813 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 58,687,912 | 58,946,147 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16253992 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001258732.1, VCV000979556.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16253992 | Remapped | Perfect | NC_000019.10:g.(?_ 58176545)_(5843478 0_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 58,176,545 | 58,434,780 |
| nssv16253992 | Submitted genomic | NC_000019.9:g.(?_5 8687912)_(58946147 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 58,687,912 | 58,946,147 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16253992 | GRCh37: NC_000019.9:g.(?_58687912)_(58946147_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001258732.1, VCV000979556.1 | 3 |