nsv3871065
- 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:38,777,178
- Description:GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)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: 110303 SVs from 143 studies. See in: genome view
Overlapping variant regions from other studies: 110302 SVs from 143 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3871065 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 159,262,842 | 198,040,019 |
| nsv3871065 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 158,980,631 | 197,766,890 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15149548 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000447464.3, VCV000393885.3 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15149548 | Remapped | Good | NC_000003.12:g.(?_ 159262842)_(198040 019_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 159,262,842 | 198,040,019 |
| nssv15149548 | Submitted genomic | NC_000003.11:g.(?_ 158980631)_(197766 890_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 158,980,631 | 197,766,890 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15149548 | GRCh37: NC_000003.11:g.(?_158980631)_(197766890_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000447464.3, VCV000393885.3 | 3 |