nsv5381807
- 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:2,767,599
- Description:GRCh37/hg19 22q11.21(chr22:18886915-21461017)x3 AND multiple conditions
- Publication(s):Manickam et al. 2021, Michelson et al. 2011, Moeschler et al. 2014, Shao et al. 2021
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 9899 SVs from 131 studies. See in: genome view
Overlapping variant regions from other studies: 9280 SVs from 130 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5381807 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 18,339,130 | 21,106,728 |
| nsv5381807 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 18,886,915 | 21,461,017 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16865904 | copy number gain | Multiple | Multiple | Epilepsy; Intellectual Disability; Intellectual disability; Intellectual disability; Seizure Disorders | Pathogenic | ClinVar | RCV001293650.2, VCV000997967.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16865904 | Remapped | Pass | NC_000022.11:g.183 39130_21106728dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 18,339,130 | 21,106,728 |
| nssv16865904 | Submitted genomic | NC_000022.10:g.188 86915_21461017dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 18,886,915 | 21,461,017 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16865904 | GRCh37: NC_000022.10:g.18886915_21461017dup | copy number gain | unknown | Epilepsy; Intellectual Disability; Intellectual disability; Intellectual disability; Seizure Disorders | Pathogenic | ClinVar | RCV001293650.2, VCV000997967.1 | 3 |