nsv3920399
- 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:21,659,867
- Description:GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)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: 62943 SVs from 141 studies. See in: genome view
Overlapping variant regions from other studies: 62939 SVs from 141 studies. See in: genome view
Overlapping variant regions from other studies: 15882 SVs from 40 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3920399 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000016.10 | Chr16 | 62,925,929 | 84,585,795 |
| nsv3920399 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 62,959,833 | 84,619,401 |
| nsv3920399 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000016.8 | Chr16 | 61,517,334 | 83,176,902 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146677 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000135863.5, VCV000146601.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146677 | Submitted genomic | NC_000016.10:g.(?_ 62925929)_(8458579 5_?)dup | GRCh38 (hg38) | NC_000016.10 | Chr16 | 62,925,929 | 84,585,795 |
| nssv15146677 | Submitted genomic | NC_000016.9:g.(?_6 2959833)_(84619401 _?)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 62,959,833 | 84,619,401 |
| nssv15146677 | Submitted genomic | NC_000016.8:g.(?_6 1517334)_(83176902 _?)dup | NCBI36 (hg18) | NC_000016.8 | Chr16 | 61,517,334 | 83,176,902 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146677 | GRCh37: NC_000016.9:g.(?_62959833)_(84619401_?)dup, GRCh38: NC_000016.10:g.(?_62925929)_(84585795_?)dup, NCBI36: NC_000016.8:g.(?_61517334)_(83176902_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000135863.5, VCV000146601.2 | 3 |