nsv3893892
- 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:12,125,069
- Description:GRCh37/hg19 14q31.2-32.2(chr14:84783137-96908198)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: 32107 SVs from 126 studies. See in: genome view
Overlapping variant regions from other studies: 32111 SVs from 126 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3893892 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 84,316,793 | 96,441,861 |
| nsv3893892 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 84,783,137 | 96,908,198 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15154706 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000683625.1, VCV000564136.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15154706 | Remapped | Perfect | NC_000014.9:g.(?_8 4316793)_(96441861 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 84,316,793 | 96,441,861 |
| nssv15154706 | Submitted genomic | NC_000014.8:g.(?_8 4783137)_(96908198 _?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 84,783,137 | 96,908,198 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15154706 | GRCh37: NC_000014.8:g.(?_84783137)_(96908198_?)del | copy number loss | germline | not provided | Pathogenic | ClinVar | RCV000683625.1, VCV000564136.1 | 1 |