nsv3881275
- 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:3,532,190
- Description:GRCh37/hg19 3p22.1-21.31(chr3:41104508-44636698)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: 7780 SVs from 107 studies. See in: genome view
Overlapping variant regions from other studies: 7781 SVs from 107 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3881275 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 41,063,017 | 44,595,206 |
| nsv3881275 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 41,104,508 | 44,636,698 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15124330 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000240302.2, VCV000253640.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15124330 | Remapped | Perfect | NC_000003.12:g.(?_ 41063017)_(4459520 6_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 41,063,017 | 44,595,206 |
| nssv15124330 | Submitted genomic | NC_000003.11:g.(?_ 41104508)_(4463669 8_?)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 41,104,508 | 44,636,698 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15124330 | GRCh37: NC_000003.11:g.(?_41104508)_(44636698_?)del | copy number loss | unknown | See cases | Pathogenic | ClinVar | RCV000240302.2, VCV000253640.2 | 1 |