nsv7098816
- 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:2,542,749
- Description:GRCh37/hg19 20p13-12.3(chr20:3034557-5524417)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: 8623 SVs from 105 studies. See in: genome view
Overlapping variant regions from other studies: 8625 SVs from 105 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv7098816 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 3,024,477 | 3,024,477 | 5,567,225 | 5,567,225 |
| nsv7098816 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 3,005,123 | 3,034,557 | 5,524,417 | 5,547,871 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18792567 | copy number loss | Multiple | Multiple | See cases | Likely pathogenic | ClinVar | RCV003158005.1, VCV002446383.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv18792567 | Remapped | Perfect | NC_000020.11:g.(30 24477_3024477)_(55 67225_5567225)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 3,024,477 | 3,024,477 | 5,567,225 | 5,567,225 |
| nssv18792567 | Submitted genomic | NC_000020.10:g.(30 05123_3034557)_(55 24417_5547871)del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 3,005,123 | 3,034,557 | 5,524,417 | 5,547,871 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18792567 | GRCh37: NC_000020.10:g.(3005123_3034557)_(5524417_5547871)del | copy number loss | de novo | See cases | Likely pathogenic | ClinVar | RCV003158005.1, VCV002446383.1 | 1 |