nsv3912530
- 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:3,500,717
- Description:GRCh38/hg38 14q23.2-23.3(chr14:62252700-65753416)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: 9560 SVs from 105 studies. See in: genome view
Overlapping variant regions from other studies: 9562 SVs from 105 studies. See in: genome view
Overlapping variant regions from other studies: 2184 SVs from 25 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3912530 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000014.9 | Chr14 | 62,252,700 | 65,753,416 |
| nsv3912530 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 62,719,418 | 66,220,134 |
| nsv3912530 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000014.7 | Chr14 | 61,789,171 | 65,289,887 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15134744 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000138250.5, VCV000149197.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15134744 | Submitted genomic | NC_000014.9:g.(?_6 2252700)_(65753416 _?)del | GRCh38 (hg38) | NC_000014.9 | Chr14 | 62,252,700 | 65,753,416 |
| nssv15134744 | Submitted genomic | NC_000014.8:g.(?_6 2719418)_(66220134 _?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 62,719,418 | 66,220,134 |
| nssv15134744 | Submitted genomic | NC_000014.7:g.(?_6 1789171)_(65289887 _?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 61,789,171 | 65,289,887 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15134744 | GRCh37: NC_000014.8:g.(?_62719418)_(66220134_?)del, GRCh38: NC_000014.9:g.(?_62252700)_(65753416_?)del, NCBI36: NC_000014.7:g.(?_61789171)_(65289887_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000138250.5, VCV000149197.2 | 1 |