nsv3888298
- 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:11,019,245
- Description:GRCh37/hg19 3p25.2-24.2(chr3:13276005-24295240)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: 25968 SVs from 123 studies. See in: genome view
Overlapping variant regions from other studies: 25974 SVs from 123 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3888298 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 13,234,505 | 24,253,749 |
| nsv3888298 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 13,276,005 | 24,295,240 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15163762 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000742260.2, VCV000605624.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15163762 | Remapped | Perfect | NC_000003.12:g.(?_ 13234505)_(2425374 9_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 13,234,505 | 24,253,749 |
| nssv15163762 | Submitted genomic | NC_000003.11:g.(?_ 13276005)_(2429524 0_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 13,276,005 | 24,295,240 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15163762 | GRCh37: NC_000003.11:g.(?_13276005)_(24295240_?)dup | copy number gain | unknown | not provided | Pathogenic | ClinVar | RCV000742260.2, VCV000605624.2 | 3 |