nsv4676288
- 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:1,244,401
- Description:
GRCh37/hg19 20p13(chr20:61568-1305971)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: 4700 SVs from 105 studies. See in: genome view
Overlapping variant regions from other studies: 4702 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 | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4676288 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 80,927 | 1,325,327 |
| nsv4676288 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 61,568 | 1,305,971 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16208563 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001007067.1, VCV000816101.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16208563 | Remapped | Perfect | NC_000020.11:g.(?_ 80927)_(1325327_?) del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 80,927 | 1,325,327 |
| nssv16208563 | Submitted genomic | NC_000020.10:g.(?_ 61568)_(1305971_?) del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 61,568 | 1,305,971 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16208563 | GRCh37: NC_000020.10:g.(?_61568)_(1305971_?)del | copy number loss | germline | not provided | Pathogenic | ClinVar | RCV001007067.1, VCV000816101.1 | 1 |