nsv4676068
- 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:1,080,476
- Description:GRCh37/hg19 16p13.3(chr16:85880-1166355)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: 8957 SVs from 113 studies. See in: genome view
Overlapping variant regions from other studies: 8959 SVs from 113 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4676068 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 35,880 | 1,116,355 |
| nsv4676068 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 85,880 | 1,166,355 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16208442 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001006741.1, VCV000815766.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16208442 | Remapped | Perfect | NC_000016.10:g.(?_ 35880)_(1116355_?) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 35,880 | 1,116,355 |
| nssv16208442 | Submitted genomic | NC_000016.9:g.(?_8 5880)_(1166355_?)d el | GRCh37 (hg19) | NC_000016.9 | Chr16 | 85,880 | 1,166,355 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16208442 | GRCh37: NC_000016.9:g.(?_85880)_(1166355_?)del | copy number loss | germline | not provided | Pathogenic | ClinVar | RCV001006741.1, VCV000815766.1 | 1 |