nsv3885461
- 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:12,513,698
- Description:GRCh37/hg19 3p26.3-25.2(chr3:61891-12575409)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: 41077 SVs from 134 studies. See in: genome view
Overlapping variant regions from other studies: 40979 SVs from 134 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3885461 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 20,213 | 12,533,910 |
| nsv3885461 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 61,891 | 12,575,409 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15150631 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000511155.2, VCV000442264.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15150631 | Remapped | Good | NC_000003.12:g.(?_ 20213)_(12533910_? )del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 20,213 | 12,533,910 |
| nssv15150631 | Submitted genomic | NC_000003.11:g.(?_ 61891)_(12575409_? )del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 61,891 | 12,575,409 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15150631 | GRCh37: NC_000003.11:g.(?_61891)_(12575409_?)del | copy number loss | de novo | See cases | Pathogenic | ClinVar | RCV000511155.2, VCV000442264.2 | 1 |