nsv4676401
- 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:892,520
- Description:GRCh37/hg19 20p12.1(chr20:15872280-16764799)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: 2729 SVs from 92 studies. See in: genome view
Overlapping variant regions from other studies: 2729 SVs from 92 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4676401 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 15,891,635 | 16,784,154 |
| nsv4676401 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 15,872,280 | 16,764,799 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16208569 | copy number loss | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001007085.1, VCV000816119.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16208569 | Remapped | Perfect | NC_000020.11:g.(?_ 15891635)_(1678415 4_?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 15,891,635 | 16,784,154 |
| nssv16208569 | Submitted genomic | NC_000020.10:g.(?_ 15872280)_(1676479 9_?)del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 15,872,280 | 16,764,799 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16208569 | GRCh37: NC_000020.10:g.(?_15872280)_(16764799_?)del | copy number loss | germline | not provided | Uncertain significance | ClinVar | RCV001007085.1, VCV000816119.1 | 1 |