nsv3875047
- 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:7,650,901
- Description:GRCh37/hg19 3p21.2-14.2(chr3:52086599-59689209)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: 17247 SVs from 125 studies. See in: genome view
Overlapping variant regions from other studies: 17221 SVs from 125 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3875047 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 52,052,583 | 59,703,483 |
| nsv3875047 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 52,086,599 | 59,689,209 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15124528 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000239886.2, VCV000253632.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15124528 | Remapped | Good | NC_000003.12:g.(?_ 52052583)_(5970348 3_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 52,052,583 | 59,703,483 |
| nssv15124528 | Submitted genomic | NC_000003.11:g.(?_ 52086599)_(5968920 9_?)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 52,086,599 | 59,689,209 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15124528 | GRCh37: NC_000003.11:g.(?_52086599)_(59689209_?)del | copy number loss | unknown | See cases | Pathogenic | ClinVar | RCV000239886.2, VCV000253632.2 | 1 |