nsv3888069
- 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:15,903,308
- Description:GRCh37/hg19 4p16.3-15.32(chr4:68345-15973383)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: 54860 SVs from 134 studies. See in: genome view
Overlapping variant regions from other studies: 54799 SVs from 134 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3888069 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 68,453 | 15,971,760 |
| nsv3888069 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 68,345 | 15,973,383 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15151109 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000510662.2, VCV000443045.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15151109 | Remapped | Good | NC_000004.12:g.(?_ 68453)_(15971760_? )del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,453 | 15,971,760 |
| nssv15151109 | Submitted genomic | NC_000004.11:g.(?_ 68345)_(15973383_? )del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 68,345 | 15,973,383 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15151109 | GRCh37: NC_000004.11:g.(?_68345)_(15973383_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000510662.2, VCV000443045.2 | 1 |