nsv3901960
- 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:12,922,647
- Description:GRCh37/hg19 22q11.23-12.3(chr22:23637907-36614412)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: 39395 SVs from 142 studies. See in: genome view
Overlapping variant regions from other studies: 40311 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3901960 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 23,295,720 | 36,218,366 |
| nsv3901960 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 23,637,907 | 36,614,412 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15142303 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000511098.2, VCV000441826.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15142303 | Remapped | Good | NC_000022.11:g.(?_ 23295720)_(3621836 6_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 23,295,720 | 36,218,366 |
| nssv15142303 | Submitted genomic | NC_000022.10:g.(?_ 23637907)_(3661441 2_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 23,637,907 | 36,614,412 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15142303 | GRCh37: NC_000022.10:g.(?_23637907)_(36614412_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000511098.2, VCV000441826.2 | 3 |