nsv3910351
- 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:3,881,661
- Description:GRCh38/hg38 16p12.1-11.2(chr16:27311746-31193406)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: 10902 SVs from 122 studies. See in: genome view
Overlapping variant regions from other studies: 10902 SVs from 122 studies. See in: genome view
Overlapping variant regions from other studies: 2287 SVs from 31 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3910351 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000016.10 | Chr16 | 27,311,746 | 31,193,406 |
| nsv3910351 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 27,323,067 | 31,204,727 |
| nsv3910351 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000016.8 | Chr16 | 27,230,568 | 31,112,228 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15137717 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000140341.5, VCV000151637.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15137717 | Submitted genomic | NC_000016.10:g.(?_ 27311746)_(3119340 6_?)dup | GRCh38 (hg38) | NC_000016.10 | Chr16 | 27,311,746 | 31,193,406 |
| nssv15137717 | Submitted genomic | NC_000016.9:g.(?_2 7323067)_(31204727 _?)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 27,323,067 | 31,204,727 |
| nssv15137717 | Submitted genomic | NC_000016.8:g.(?_2 7230568)_(31112228 _?)dup | NCBI36 (hg18) | NC_000016.8 | Chr16 | 27,230,568 | 31,112,228 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15137717 | GRCh37: NC_000016.9:g.(?_27323067)_(31204727_?)dup, GRCh38: NC_000016.10:g.(?_27311746)_(31193406_?)dup, NCBI36: NC_000016.8:g.(?_27230568)_(31112228_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000140341.5, VCV000151637.1 | 3 |