nsv3897068
- 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:1,412,851
- Description:GRCh37/hg19 16p13.3(chr16:85880-1498731)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: 11141 SVs from 118 studies. See in: genome view
Overlapping variant regions from other studies: 11143 SVs from 118 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3897068 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 35,880 | 1,448,730 |
| nsv3897068 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 85,880 | 1,498,731 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15155464 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000683740.1, VCV000564251.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15155464 | Remapped | Perfect | NC_000016.10:g.(?_ 35880)_(1448730_?) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 35,880 | 1,448,730 |
| nssv15155464 | Submitted genomic | NC_000016.9:g.(?_8 5880)_(1498731_?)d el | GRCh37 (hg19) | NC_000016.9 | Chr16 | 85,880 | 1,498,731 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15155464 | GRCh37: NC_000016.9:g.(?_85880)_(1498731_?)del | copy number loss | germline | not provided | Pathogenic | ClinVar | RCV000683740.1, VCV000564251.1 | 1 |