nsv3884306
- 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:4,926
- Description:GRCh37/hg19 3p22.1(chr3:39449057-39453982)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: 74 SVs from 18 studies. See in: genome view
Overlapping variant regions from other studies: 74 SVs from 18 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3884306 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 39,407,566 | 39,412,491 |
| nsv3884306 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 39,449,057 | 39,453,982 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15124425 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000240523.1, VCV000253959.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15124425 | Remapped | Perfect | NC_000003.12:g.(?_ 39407566)_(3941249 1_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 39,407,566 | 39,412,491 |
| nssv15124425 | Submitted genomic | NC_000003.11:g.(?_ 39449057)_(3945398 2_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 39,449,057 | 39,453,982 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15124425 | GRCh37: NC_000003.11:g.(?_39449057)_(39453982_?)dup | copy number gain | unknown | See cases | Uncertain significance | ClinVar | RCV000240523.1, VCV000253959.1 | 3 |