nsv4729926
- 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:34,418,635
- Description:GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)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: 117998 SVs from 149 studies. See in: genome view
Overlapping variant regions from other studies: 120656 SVs from 149 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv4729926 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | - | 16,367,190 | 50,785,824 |
| nsv4729926 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 16,197,005 | - | 51,224,252 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16254742 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV001263056.1, VCV000983188.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nssv16254742 | Remapped | Good | NC_000022.11:g.(?_ 16367190)_(?_50785 824)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | - | 16,367,190 | 50,785,824 |
| nssv16254742 | Submitted genomic | NC_000022.10:g.(16 197005_?)_(?_51224 252)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 16,197,005 | - | 51,224,252 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16254742 | GRCh37: NC_000022.10:g.(16197005_?)_(?_51224252)dup | copy number gain | unknown | See cases | Pathogenic | ClinVar | RCV001263056.1, VCV000983188.1 | 3 |