nsv3890683
- 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:4,663,211
- Description:GRCh37/hg19 22q12.1-12.3(chr22:28349854-33013062)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: 13008 SVs from 112 studies. See in: genome view
Overlapping variant regions from other studies: 13010 SVs from 112 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3890683 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 27,953,866 | 32,617,076 |
| nsv3890683 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 28,349,854 | 33,013,062 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15141185 | copy number gain | Multiple | Multiple | See cases | Likely pathogenic | ClinVar | RCV000510523.2, VCV000442415.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15141185 | Remapped | Perfect | NC_000022.11:g.(?_ 27953866)_(3261707 6_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 27,953,866 | 32,617,076 |
| nssv15141185 | Submitted genomic | NC_000022.10:g.(?_ 28349854)_(3301306 2_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 28,349,854 | 33,013,062 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15141185 | GRCh37: NC_000022.10:g.(?_28349854)_(33013062_?)dup | copy number gain | not provided | See cases | Likely pathogenic | ClinVar | RCV000510523.2, VCV000442415.2 | 3 |