nsv3917026
- 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:1,108,003
- Description:GRCh38/hg38 22q11.21-11.22(chr22:21454661-22562663)x1 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: 5657 SVs from 123 studies. See in: genome view
Overlapping variant regions from other studies: 5691 SVs from 123 studies. See in: genome view
Overlapping variant regions from other studies: 2164 SVs from 31 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3917026 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000022.11 | Chr22 | 21,454,661 | 22,562,663 |
| nsv3917026 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 21,808,950 | 22,905,068 |
| nsv3917026 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000022.9 | Chr22 | 20,138,950 | 21,235,068 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15132940 | copy number loss | Multiple | Multiple | See cases | Pathogenic/Likely pathogenic | ClinVar | RCV000053082.11, VCV000032689.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15132940 | Submitted genomic | NC_000022.11:g.(?_ 21454661)_(2256266 3_?)del | GRCh38 (hg38) | NC_000022.11 | Chr22 | 21,454,661 | 22,562,663 |
| nssv15132940 | Submitted genomic | NC_000022.10:g.(?_ 21808950)_(2290506 8_?)del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 21,808,950 | 22,905,068 |
| nssv15132940 | Submitted genomic | NC_000022.9:g.(?_2 0138950)_(21235068 _?)del | NCBI36 (hg18) | NC_000022.9 | Chr22 | 20,138,950 | 21,235,068 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15132940 | GRCh37: NC_000022.10:g.(?_21808950)_(22905068_?)del, GRCh38: NC_000022.11:g.(?_21454661)_(22562663_?)del, NCBI36: NC_000022.9:g.(?_20138950)_(21235068_?)del | copy number loss | see ClinVar for details | See cases | Pathogenic/Likely pathogenic | ClinVar | RCV000053082.11, VCV000032689.2 | 1 |