nsv4676393
- 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:15,317,493
- Description:GRCh37/hg19 18p11.32-11.21(chr18:13034-15330525)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: 47465 SVs from 131 studies. See in: genome view
Overlapping variant regions from other studies: 47507 SVs from 131 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4676393 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 13,034 | 15,330,526 |
| nsv4676393 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000018.9 | Chr18 | 13,034 | 15,330,525 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16208662 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV001007421.1, VCV000816496.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16208662 | Remapped | Perfect | NC_000018.10:g.(?_ 13034)_(15330526_? )del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 13,034 | 15,330,526 |
| nssv16208662 | Submitted genomic | NC_000018.9:g.(?_1 3034)_(15330525_?) del | GRCh37 (hg19) | NC_000018.9 | Chr18 | 13,034 | 15,330,525 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16208662 | GRCh37: NC_000018.9:g.(?_13034)_(15330525_?)del | copy number loss | de novo | See cases | Pathogenic | ClinVar | RCV001007421.1, VCV000816496.1 | 1 |