nsv4350223
- 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:1,033,531
- Description:GRCh37/hg19 16q22.1(chr16:67132790-68166320) 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: 2412 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 2412 SVs from 85 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4350223 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 67,098,887 | 68,132,417 |
| nsv4350223 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 67,132,790 | 68,166,320 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15605822 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000767617.1, VCV000625609.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15605822 | Remapped | Perfect | NC_000016.10:g.(?_ 67098887)_(6813241 7_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 67,098,887 | 68,132,417 |
| nssv15605822 | Submitted genomic | NC_000016.9:g.(?_6 7132790)_(68166320 _?)del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 67,132,790 | 68,166,320 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15605822 | GRCh37: NC_000016.9:g.(?_67132790)_(68166320_?)del | copy number loss | germline | not provided | Pathogenic | ClinVar | RCV000767617.1, VCV000625609.1 |