nsv4676085
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:2,152,685
- Description:GRCh37/hg19 14q11.2(chr14:21143933-23297667)x1 AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 10779 SVs from 123 studies. See in: genome view
Overlapping variant regions from other studies: 10970 SVs from 124 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4676085 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 20,675,774 | 22,828,458 |
| nsv4676085 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 21,143,933 | 23,297,667 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16208379 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001006606.1, VCV000815629.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16208379 | Remapped | Good | NC_000014.9:g.(?_2 0675774)_(22828458 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 20,675,774 | 22,828,458 |
| nssv16208379 | Submitted genomic | NC_000014.8:g.(?_2 1143933)_(23297667 _?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 21,143,933 | 23,297,667 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16208379 | GRCh37: NC_000014.8:g.(?_21143933)_(23297667_?)del | copy number loss | germline | not provided | Pathogenic | ClinVar | RCV001006606.1, VCV000815629.1 | 1 |