nsv3894871
- 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:980,246
- Description:GRCh37/hg19 16p11.2(chr16:29351826-30332071)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: 2807 SVs from 98 studies. See in: genome view
Overlapping variant regions from other studies: 2807 SVs from 98 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3894871 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 29,340,505 | 30,320,750 |
| nsv3894871 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 29,351,826 | 30,332,071 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15155484 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000683806.3, VCV000564317.3 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15155484 | Remapped | Perfect | NC_000016.10:g.(?_ 29340505)_(3032075 0_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 29,340,505 | 30,320,750 |
| nssv15155484 | Submitted genomic | NC_000016.9:g.(?_2 9351826)_(30332071 _?)del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 29,351,826 | 30,332,071 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15155484 | GRCh37: NC_000016.9:g.(?_29351826)_(30332071_?)del | copy number loss | unknown | not provided | Pathogenic | ClinVar | RCV000683806.3, VCV000564317.3 | 1 |