nsv3920279
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:13,564,382
- Description:GRCh38/hg38 3q22.1-24(chr3:129817243-143381624)x1 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 30435 SVs from 125 studies. See in: genome view
Overlapping variant regions from other studies: 30437 SVs from 125 studies. See in: genome view
Overlapping variant regions from other studies: 8338 SVs from 35 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3920279 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 129,817,243 | 143,381,624 |
| nsv3920279 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 129,536,086 | 143,100,466 |
| nsv3920279 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 131,018,776 | 144,583,156 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15145834 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000136558.5, VCV000147358.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15145834 | Submitted genomic | NC_000003.12:g.(?_ 129817243)_(143381 624_?)del | GRCh38 (hg38) | NC_000003.12 | Chr3 | 129,817,243 | 143,381,624 |
| nssv15145834 | Submitted genomic | NC_000003.11:g.(?_ 129536086)_(143100 466_?)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 129,536,086 | 143,100,466 |
| nssv15145834 | Submitted genomic | NC_000003.10:g.(?_ 131018776)_(144583 156_?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 131,018,776 | 144,583,156 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15145834 | GRCh37: NC_000003.11:g.(?_129536086)_(143100466_?)del, GRCh38: NC_000003.12:g.(?_129817243)_(143381624_?)del, NCBI36: NC_000003.10:g.(?_131018776)_(144583156_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000136558.5, VCV000147358.2 | 1 |