nsv4684209
- 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:24,131,376
- Description:GRCh37/hg19 3q22.3-26.1(chr3:138145289-162275610)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: 56195 SVs from 128 studies. See in: genome view
Overlapping variant regions from other studies: 56213 SVs from 128 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4684209 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 138,426,447 | 162,557,822 |
| nsv4684209 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 138,145,289 | 162,275,610 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16215292 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV001194586.1, VCV000929388.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16215292 | Remapped | Good | NC_000003.12:g.(?_ 138426447)_(162557 822_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 138,426,447 | 162,557,822 |
| nssv16215292 | Submitted genomic | NC_000003.11:g.(?_ 138145289)_(162275 610_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 138,145,289 | 162,275,610 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16215292 | GRCh37: NC_000003.11:g.(?_138145289)_(162275610_?)dup | copy number gain | paternal | See cases | Pathogenic | ClinVar | RCV001194586.1, VCV000929388.1 | 3 |