nsv4728146
- 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:2,556,368
- Description:GRCh37/hg19 3p21.31-21.2(chr3:48807193-51363558)x1 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: 6571 SVs from 103 studies. See in: genome view
Overlapping variant regions from other studies: 6571 SVs from 103 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4728146 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 48,769,760 | 51,326,127 |
| nsv4728146 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 48,807,193 | 51,363,558 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16255498 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001259686.1, VCV000980510.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16255498 | Remapped | Perfect | NC_000003.12:g.(?_ 48769760)_(5132612 7_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 48,769,760 | 51,326,127 |
| nssv16255498 | Submitted genomic | NC_000003.11:g.(?_ 48807193)_(5136355 8_?)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 48,807,193 | 51,363,558 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16255498 | GRCh37: NC_000003.11:g.(?_48807193)_(51363558_?)del | copy number loss | germline | not provided | Pathogenic | ClinVar | RCV001259686.1, VCV000980510.1 | 1 |