nsv6637493
- 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:2,431,857
- Description:GRCh37/hg19 16q22.3-23.1(chr16:73673334-76105189)x4 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: 7733 SVs from 119 studies. See in: genome view
Overlapping variant regions from other studies: 7733 SVs from 119 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6637493 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 73,639,435 | 76,071,291 |
| nsv6637493 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 73,673,334 | 76,105,189 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18329022 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV002475008.1, VCV001809163.1 | 4 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18329022 | Remapped | Perfect | NC_000016.10:g.(?_ 73639435)_(7607129 1_?)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 73,639,435 | 76,071,291 |
| nssv18329022 | Submitted genomic | NC_000016.9:g.(?_7 3673334)_(76105189 _?)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 73,673,334 | 76,105,189 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18329022 | GRCh37: NC_000016.9:g.(?_73673334)_(76105189_?)dup | copy number gain | unknown | not provided | Uncertain significance | ClinVar | RCV002475008.1, VCV001809163.1 | 4 |