nsv3889828
- 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:5,932,620
- Description:GRCh37/hg19 3q22.3-23(chr3:135935129-141867748)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: 13585 SVs from 118 studies. See in: genome view
Overlapping variant regions from other studies: 13585 SVs from 118 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3889828 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 136,216,287 | 142,148,906 |
| nsv3889828 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 135,935,129 | 141,867,748 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15124527 | copy number gain | Multiple | Multiple | See cases | Likely pathogenic | ClinVar | RCV000239877.1, VCV000253333.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15124527 | Remapped | Perfect | NC_000003.12:g.(?_ 136216287)_(142148 906_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 136,216,287 | 142,148,906 |
| nssv15124527 | Submitted genomic | NC_000003.11:g.(?_ 135935129)_(141867 748_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 135,935,129 | 141,867,748 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15124527 | GRCh37: NC_000003.11:g.(?_135935129)_(141867748_?)dup | copy number gain | unknown | See cases | Likely pathogenic | ClinVar | RCV000239877.1, VCV000253333.1 | 3 |