nsv3910304
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:24,585,513
- Description:GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 82457 SVs from 144 studies. See in: genome view
Overlapping variant regions from other studies: 82392 SVs from 144 studies. See in: genome view
Overlapping variant regions from other studies: 20617 SVs from 39 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3910304 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000016.10 | Chr16 | 65,511,483 | 90,096,995 |
| nsv3910304 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 65,545,386 | 90,163,403 |
| nsv3910304 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000016.8 | Chr16 | 64,102,887 | 88,690,904 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15147487 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000139426.5, VCV000150599.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15147487 | Submitted genomic | NC_000016.10:g.(?_ 65511483)_(9009699 5_?)dup | GRCh38 (hg38) | NC_000016.10 | Chr16 | 65,511,483 | 90,096,995 |
| nssv15147487 | Submitted genomic | NC_000016.9:g.(?_6 5545386)_(90163403 _?)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 65,545,386 | 90,163,403 |
| nssv15147487 | Submitted genomic | NC_000016.8:g.(?_6 4102887)_(88690904 _?)dup | NCBI36 (hg18) | NC_000016.8 | Chr16 | 64,102,887 | 88,690,904 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15147487 | GRCh37: NC_000016.9:g.(?_65545386)_(90163403_?)dup, GRCh38: NC_000016.10:g.(?_65511483)_(90096995_?)dup, NCBI36: NC_000016.8:g.(?_64102887)_(88690904_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000139426.5, VCV000150599.2 | 3 |