nsv4684161
- 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:49,569,326
- Description:GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3 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: 149294 SVs from 142 studies. See in: genome view
Overlapping variant regions from other studies: 149267 SVs from 142 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4684161 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 49,556 | 49,618,881 |
| nsv4684161 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 49,450 | 49,620,898 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16215300 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV001194594.1, VCV000929396.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16215300 | Remapped | Good | NC_000004.12:g.(?_ 49556)_(49618881_? )dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 49,556 | 49,618,881 |
| nssv16215300 | Submitted genomic | NC_000004.11:g.(?_ 49450)_(49620898_? )dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 49,450 | 49,620,898 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16215300 | GRCh37: NC_000004.11:g.(?_49450)_(49620898_?)dup | copy number gain | unknown | See cases | Pathogenic | ClinVar | RCV001194594.1, VCV000929396.1 | 3 |