nsv3885606
- 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:198,202,661
- Description:GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 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: 493761 SVs from 153 studies. See in: genome view
Overlapping variant regions from other studies: 492262 SVs from 153 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3885606 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 18,496 | 198,221,156 |
| nsv3885606 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 60,174 | 197,948,027 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15162889 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000742133.2, VCV000605497.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15162889 | Remapped | Good | NC_000003.12:g.(?_ 18496)_(198221156_ ?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 18,496 | 198,221,156 |
| nssv15162889 | Submitted genomic | NC_000003.11:g.(?_ 60174)_(197948027_ ?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 60,174 | 197,948,027 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15162889 | GRCh37: NC_000003.11:g.(?_60174)_(197948027_?)dup | copy number gain | unknown | not provided | Pathogenic | ClinVar | RCV000742133.2, VCV000605497.2 | 3 |