nsv3903348
- 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:5,520
- Description:GRCh37/hg19 12p13.33(chr12:292981-298500)x1 AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 267 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 232 SVs from 52 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3903348 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 183,815 | 189,334 |
| nsv3903348 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 292,981 | 298,500 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15170393 | copy number loss | Multiple | Multiple | not provided | Benign | ClinVar | RCV000750247.2, VCV000613611.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15170393 | Remapped | Perfect | NC_000012.12:g.(?_ 183815)_(189334_?) del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 183,815 | 189,334 |
| nssv15170393 | Submitted genomic | NC_000012.11:g.(?_ 292981)_(298500_?) del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 292,981 | 298,500 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15170393 | GRCh37: NC_000012.11:g.(?_292981)_(298500_?)del | copy number loss | unknown | not provided | Benign | ClinVar | RCV000750247.2, VCV000613611.2 | 1 |