nsv3923205
- 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:5,000,885
- Description:GRCh38/hg38 22q12.1-12.2(chr22:26451042-31451926)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: 13305 SVs from 114 studies. See in: genome view
Overlapping variant regions from other studies: 13312 SVs from 114 studies. See in: genome view
Overlapping variant regions from other studies: 3214 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 |
|---|---|---|---|---|---|---|---|
| nsv3923205 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000022.11 | Chr22 | 26,451,042 | 31,451,926 |
| nsv3923205 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 26,847,008 | 31,847,912 |
| nsv3923205 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000022.9 | Chr22 | 25,177,008 | 30,177,912 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15139891 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000143415.6, VCV000155348.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15139891 | Submitted genomic | NC_000022.11:g.(?_ 26451042)_(3145192 6_?)del | GRCh38 (hg38) | NC_000022.11 | Chr22 | 26,451,042 | 31,451,926 |
| nssv15139891 | Submitted genomic | NC_000022.10:g.(?_ 26847008)_(3184791 2_?)del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 26,847,008 | 31,847,912 |
| nssv15139891 | Submitted genomic | NC_000022.9:g.(?_2 5177008)_(30177912 _?)del | NCBI36 (hg18) | NC_000022.9 | Chr22 | 25,177,008 | 30,177,912 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15139891 | GRCh37: NC_000022.10:g.(?_26847008)_(31847912_?)del, GRCh38: NC_000022.11:g.(?_26451042)_(31451926_?)del, NCBI36: NC_000022.9:g.(?_25177008)_(30177912_?)del | copy number loss | de novo | See cases | Pathogenic | ClinVar | RCV000143415.6, VCV000155348.2 | 1 |