nsv3883164
- 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:12,904,966
- Description:GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)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: 30568 SVs from 131 studies. See in: genome view
Overlapping variant regions from other studies: 30551 SVs from 131 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3883164 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 36,986,822 | 49,891,787 |
| nsv3883164 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 37,028,313 | 49,929,220 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15147573 | copy number gain | Multiple | Multiple | See cases | Likely pathogenic | ClinVar | RCV000240519.1, VCV000253356.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15147573 | Remapped | Good | NC_000003.12:g.(?_ 36986822)_(4989178 7_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 36,986,822 | 49,891,787 |
| nssv15147573 | Submitted genomic | NC_000003.11:g.(?_ 37028313)_(4992922 0_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 37,028,313 | 49,929,220 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15147573 | GRCh37: NC_000003.11:g.(?_37028313)_(49929220_?)dup | copy number gain | unknown | See cases | Likely pathogenic | ClinVar | RCV000240519.1, VCV000253356.1 | 3 |