nsv6291579
- 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:66,646
- Description:GRCh37/hg19 16p13.3(chr16:4180337-4246982)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: 348 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 348 SVs from 56 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6291579 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 4,130,336 | 4,196,981 |
| nsv6291579 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 4,180,337 | 4,246,982 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17956614 | copy number loss | Multiple | Multiple | not provided | Likely benign | ClinVar | RCV001827792.1, VCV001340406.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17956614 | Remapped | Perfect | NC_000016.10:g.(?_ 4130336)_(4196981_ ?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 4,130,336 | 4,196,981 |
| nssv17956614 | Submitted genomic | NC_000016.9:g.(?_4 180337)_(4246982_? )del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 4,180,337 | 4,246,982 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17956614 | GRCh37: NC_000016.9:g.(?_4180337)_(4246982_?)del | copy number loss | germline | not provided | Likely benign | ClinVar | RCV001827792.1, VCV001340406.1 | 1 |