nsv4578581
- 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:7,703,184
- Description:GRCh37/hg19 4q35.1-35.2(chr4:183245174-190948359)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: 36348 SVs from 138 studies. See in: genome view
Overlapping variant regions from other studies: 36357 SVs from 136 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4578581 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 182,324,021 | 190,027,204 |
| nsv4578581 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 183,245,174 | 190,948,359 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16091942 | copy number loss | Multiple | Multiple | not provided | Likely pathogenic | ClinVar | RCV000998343.10, VCV000809725.16 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16091942 | Remapped | Perfect | NC_000004.12:g.(?_ 182324021)_(190027 204_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 182,324,021 | 190,027,204 |
| nssv16091942 | Submitted genomic | NC_000004.11:g.(?_ 183245174)_(190948 359_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 183,245,174 | 190,948,359 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16091942 | GRCh37: NC_000004.11:g.(?_183245174)_(190948359_?)del | copy number loss | germline | not provided | Likely pathogenic | ClinVar | RCV000998343.10, VCV000809725.16 | 1 |