nsv3884529
- 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:4,746,196
- Description:GRCh37/hg19 3q27.3-28(chr3:186291045-191037240)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: 12854 SVs from 122 studies. See in: genome view
Overlapping variant regions from other studies: 12855 SVs from 122 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3884529 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 186,573,256 | 191,319,451 |
| nsv3884529 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 186,291,045 | 191,037,240 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15139755 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000240447.1, VCV000253655.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15139755 | Remapped | Perfect | NC_000003.12:g.(?_ 186573256)_(191319 451_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 186,573,256 | 191,319,451 |
| nssv15139755 | Submitted genomic | NC_000003.11:g.(?_ 186291045)_(191037 240_?)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 186,291,045 | 191,037,240 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15139755 | GRCh37: NC_000003.11:g.(?_186291045)_(191037240_?)del | copy number loss | unknown | See cases | Pathogenic | ClinVar | RCV000240447.1, VCV000253655.1 | 1 |