nsv3916461
- 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:33,119,537
- Description:GRCh38/hg38 3p14.3-11.1(chr3:57140424-90259960)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: 82444 SVs from 139 studies. See in: genome view
Overlapping variant regions from other studies: 82500 SVs from 139 studies. See in: genome view
Overlapping variant regions from other studies: 22213 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 |
|---|---|---|---|---|---|---|---|
| nsv3916461 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 57,140,424 | 90,259,960 |
| nsv3916461 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 57,174,452 | 90,309,110 |
| nsv3916461 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 57,149,492 | 90,391,800 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15148889 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000139626.6, VCV000150826.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15148889 | Submitted genomic | NC_000003.12:g.(?_ 57140424)_(9025996 0_?)del | GRCh38 (hg38) | NC_000003.12 | Chr3 | 57,140,424 | 90,259,960 |
| nssv15148889 | Submitted genomic | NC_000003.11:g.(?_ 57174452)_(9030911 0_?)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 57,174,452 | 90,309,110 |
| nssv15148889 | Submitted genomic | NC_000003.10:g.(?_ 57149492)_(9039180 0_?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 57,149,492 | 90,391,800 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15148889 | GRCh37: NC_000003.11:g.(?_57174452)_(90309110_?)del, GRCh38: NC_000003.12:g.(?_57140424)_(90259960_?)del, NCBI36: NC_000003.10:g.(?_57149492)_(90391800_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000139626.6, VCV000150826.2 | 1 |