nsv4728751
- 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:2,510,592
- Description:GRCh37/hg19 3q26.33(chr3:179016729-181527320)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: 5656 SVs from 92 studies. See in: genome view
Overlapping variant regions from other studies: 5656 SVs from 92 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4728751 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 179,298,941 | 181,809,532 |
| nsv4728751 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 179,016,729 | 181,527,320 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16255536 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001259729.1, VCV000980553.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16255536 | Remapped | Perfect | NC_000003.12:g.(?_ 179298941)_(181809 532_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 179,298,941 | 181,809,532 |
| nssv16255536 | Submitted genomic | NC_000003.11:g.(?_ 179016729)_(181527 320_?)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 179,016,729 | 181,527,320 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16255536 | GRCh37: NC_000003.11:g.(?_179016729)_(181527320_?)del | copy number loss | germline | not provided | Pathogenic | ClinVar | RCV001259729.1, VCV000980553.1 | 1 |