nsv3890981
- 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:13,998,716
- Description:GRCh37/hg19 20p13-12.1(chr20:3092739-17091453)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: 43169 SVs from 130 studies. See in: genome view
Overlapping variant regions from other studies: 43176 SVs from 130 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3890981 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 3,112,093 | 17,110,808 |
| nsv3890981 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 3,092,739 | 17,091,453 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15156259 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000684134.1, VCV000564645.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15156259 | Remapped | Perfect | NC_000020.11:g.(?_ 3112093)_(17110808 _?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 3,112,093 | 17,110,808 |
| nssv15156259 | Submitted genomic | NC_000020.10:g.(?_ 3092739)_(17091453 _?)del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 3,092,739 | 17,091,453 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15156259 | GRCh37: NC_000020.10:g.(?_3092739)_(17091453_?)del | copy number loss | germline | not provided | Pathogenic | ClinVar | RCV000684134.1, VCV000564645.1 | 1 |