nsv3924878
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:233,688
- Description:GRCh38/hg38 22q13.2(chr22:41764466-41998153)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: 577 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 577 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 130 SVs from 10 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3924878 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000022.11 | Chr22 | 41,764,466 | 41,998,153 |
| nsv3924878 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 42,160,470 | 42,394,157 |
| nsv3924878 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000022.9 | Chr22 | 40,490,416 | 40,724,103 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15138453 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000142720.4, VCV000154653.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15138453 | Submitted genomic | NC_000022.11:g.(?_ 41764466)_(4199815 3_?)dup | GRCh38 (hg38) | NC_000022.11 | Chr22 | 41,764,466 | 41,998,153 |
| nssv15138453 | Submitted genomic | NC_000022.10:g.(?_ 42160470)_(4239415 7_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 42,160,470 | 42,394,157 |
| nssv15138453 | Submitted genomic | NC_000022.9:g.(?_4 0490416)_(40724103 _?)dup | NCBI36 (hg18) | NC_000022.9 | Chr22 | 40,490,416 | 40,724,103 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15138453 | GRCh37: NC_000022.10:g.(?_42160470)_(42394157_?)dup, GRCh38: NC_000022.11:g.(?_41764466)_(41998153_?)dup, NCBI36: NC_000022.9:g.(?_40490416)_(40724103_?)dup | copy number gain | paternal | See cases | Uncertain significance | ClinVar | RCV000142720.4, VCV000154653.2 | 3 |