nsv5980454
- 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:761,679
- Description:GRCh37/hg19 16p11.2(chr16:29545794-30307472)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: 2382 SVs from 97 studies. See in: genome view
Overlapping variant regions from other studies: 2382 SVs from 97 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5980454 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 29,534,473 | 30,296,151 |
| nsv5980454 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 29,545,794 | 30,307,472 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17517465 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV001526481.1, VCV001172563.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17517465 | Remapped | Perfect | NC_000016.10:g.(29 534473_?)_(?_30296 151)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 29,534,473 | 30,296,151 |
| nssv17517465 | Submitted genomic | NC_000016.9:g.(295 45794_?)_(?_303074 72)del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 29,545,794 | 30,307,472 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17517465 | GRCh37: NC_000016.9:g.(29545794_?)_(?_30307472)del | copy number loss | unknown | See cases | Pathogenic | ClinVar | RCV001526481.1, VCV001172563.1 | 1 |