nsv3921621
- 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:4,667,909
- Description:GRCh38/hg38 14q13.3-21.1(chr14:36434568-41102476)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: 13019 SVs from 115 studies. See in: genome view
Overlapping variant regions from other studies: 13020 SVs from 115 studies. See in: genome view
Overlapping variant regions from other studies: 3566 SVs from 30 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3921621 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000014.9 | Chr14 | 36,434,568 | 41,102,476 |
| nsv3921621 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 36,903,773 | 41,571,681 |
| nsv3921621 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000014.7 | Chr14 | 35,973,524 | 40,641,431 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15133473 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000051515.4, VCV000057775.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15133473 | Submitted genomic | NC_000014.9:g.(?_3 6434568)_(41102476 _?)del | GRCh38 (hg38) | NC_000014.9 | Chr14 | 36,434,568 | 41,102,476 |
| nssv15133473 | Submitted genomic | NC_000014.8:g.(?_3 6903773)_(41571681 _?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 36,903,773 | 41,571,681 |
| nssv15133473 | Submitted genomic | NC_000014.7:g.(?_3 5973524)_(40641431 _?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 35,973,524 | 40,641,431 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15133473 | GRCh37: NC_000014.8:g.(?_36903773)_(41571681_?)del, GRCh38: NC_000014.9:g.(?_36434568)_(41102476_?)del, NCBI36: NC_000014.7:g.(?_35973524)_(40641431_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000051515.4, VCV000057775.1 | 1 |