nsv4456879
- 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:8,546,588
- Description:GRCh37/hg19 4q28.3-31.21(chr4:134054911-142601496)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: 23063 SVs from 125 studies. See in: genome view
Overlapping variant regions from other studies: 23063 SVs from 125 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4456879 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 133,133,756 | 141,680,343 |
| nsv4456879 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 134,054,911 | 142,601,496 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15772469 | copy number loss | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV000847693.2, VCV000686985.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15772469 | Remapped | Perfect | NC_000004.12:g.(?_ 133133756)_(141680 343_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 133,133,756 | 141,680,343 |
| nssv15772469 | Submitted genomic | NC_000004.11:g.(?_ 134054911)_(142601 496_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 134,054,911 | 142,601,496 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15772469 | GRCh37: NC_000004.11:g.(?_134054911)_(142601496_?)del | copy number loss | unknown | not provided | Uncertain significance | ClinVar | RCV000847693.2, VCV000686985.2 | 1 |