nsv3920484
- 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:5,206,368
- Description:GRCh38/hg38 16q11.2-12.1(chr16:46466829-51673196)x1 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: 10706 SVs from 104 studies. See in: genome view
Overlapping variant regions from other studies: 10706 SVs from 104 studies. See in: genome view
Overlapping variant regions from other studies: 2675 SVs from 26 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3920484 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000016.10 | Chr16 | 46,466,829 | 51,673,196 |
| nsv3920484 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 46,500,741 | 51,707,107 |
| nsv3920484 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000016.8 | Chr16 | 45,058,242 | 50,264,608 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15134393 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000053310.6, VCV000059468.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15134393 | Submitted genomic | NC_000016.10:g.(?_ 46466829)_(5167319 6_?)del | GRCh38 (hg38) | NC_000016.10 | Chr16 | 46,466,829 | 51,673,196 |
| nssv15134393 | Submitted genomic | NC_000016.9:g.(?_4 6500741)_(51707107 _?)del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 46,500,741 | 51,707,107 |
| nssv15134393 | Submitted genomic | NC_000016.8:g.(?_4 5058242)_(50264608 _?)del | NCBI36 (hg18) | NC_000016.8 | Chr16 | 45,058,242 | 50,264,608 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15134393 | GRCh37: NC_000016.9:g.(?_46500741)_(51707107_?)del, GRCh38: NC_000016.10:g.(?_46466829)_(51673196_?)del, NCBI36: NC_000016.8:g.(?_45058242)_(50264608_?)del | copy number loss | de novo | See cases | Pathogenic | ClinVar | RCV000053310.6, VCV000059468.1 | 1 |