nsv4676419
- 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:13,516,964
- Description:GRCh37/hg19 20p12.3-11.22(chr20:8571696-22088650)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: 38605 SVs from 129 studies. See in: genome view
Overlapping variant regions from other studies: 38609 SVs from 129 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4676419 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 8,591,049 | 22,108,012 |
| nsv4676419 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 8,571,696 | 22,088,650 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16208567 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001007080.1, VCV000816114.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16208567 | Remapped | Perfect | NC_000020.11:g.(?_ 8591049)_(22108012 _?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 8,591,049 | 22,108,012 |
| nssv16208567 | Submitted genomic | NC_000020.10:g.(?_ 8571696)_(22088650 _?)del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 8,571,696 | 22,088,650 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16208567 | GRCh37: NC_000020.10:g.(?_8571696)_(22088650_?)del | copy number loss | germline | not provided | Pathogenic | ClinVar | RCV001007080.1, VCV000816114.1 | 1 |