nsv4728631
- 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:261,098
- Description:GRCh37/hg19 3p22.3(chr3:32249166-32510263)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: 745 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 745 SVs from 63 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4728631 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 32,207,674 | 32,468,771 |
| nsv4728631 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 32,249,166 | 32,510,263 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16255502 | copy number gain | Multiple | Multiple | not provided | Likely benign | ClinVar | RCV001259691.1, VCV000980515.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16255502 | Remapped | Perfect | NC_000003.12:g.(?_ 32207674)_(3246877 1_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 32,207,674 | 32,468,771 |
| nssv16255502 | Submitted genomic | NC_000003.11:g.(?_ 32249166)_(3251026 3_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 32,249,166 | 32,510,263 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16255502 | GRCh37: NC_000003.11:g.(?_32249166)_(32510263_?)dup | copy number gain | germline | not provided | Likely benign | ClinVar | RCV001259691.1, VCV000980515.1 | 3 |