nsv4456233
- 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:260,003
- Description:GRCh37/hg19 16q12.2(chr16:53789151-54049153)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: 588 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 588 SVs from 57 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4456233 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 53,755,239 | 54,015,241 |
| nsv4456233 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 53,789,151 | 54,049,153 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15772175 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000846883.2, VCV000686175.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15772175 | Remapped | Perfect | NC_000016.10:g.(?_ 53755239)_(5401524 1_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 53,755,239 | 54,015,241 |
| nssv15772175 | Submitted genomic | NC_000016.9:g.(?_5 3789151)_(54049153 _?)del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 53,789,151 | 54,049,153 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15772175 | GRCh37: NC_000016.9:g.(?_53789151)_(54049153_?)del | copy number loss | unknown | not provided | Pathogenic | ClinVar | RCV000846883.2, VCV000686175.2 | 1 |