nsv3924941
- 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:3,256,271
- Description:GRCh38/hg38 22q12.1-12.2(chr22:26221273-29477543)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: 8382 SVs from 111 studies. See in: genome view
Overlapping variant regions from other studies: 8389 SVs from 111 studies. See in: genome view
Overlapping variant regions from other studies: 2093 SVs from 29 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3924941 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000022.11 | Chr22 | 26,221,273 | 29,477,543 |
| nsv3924941 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 26,617,239 | 29,873,532 |
| nsv3924941 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000022.9 | Chr22 | 24,947,239 | 28,203,532 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15121172 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000052869.4, VCV000059072.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15121172 | Submitted genomic | NC_000022.11:g.(?_ 26221273)_(2947754 3_?)del | GRCh38 (hg38) | NC_000022.11 | Chr22 | 26,221,273 | 29,477,543 |
| nssv15121172 | Submitted genomic | NC_000022.10:g.(?_ 26617239)_(2987353 2_?)del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 26,617,239 | 29,873,532 |
| nssv15121172 | Submitted genomic | NC_000022.9:g.(?_2 4947239)_(28203532 _?)del | NCBI36 (hg18) | NC_000022.9 | Chr22 | 24,947,239 | 28,203,532 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15121172 | GRCh37: NC_000022.10:g.(?_26617239)_(29873532_?)del, GRCh38: NC_000022.11:g.(?_26221273)_(29477543_?)del, NCBI36: NC_000022.9:g.(?_24947239)_(28203532_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000052869.4, VCV000059072.1 | 1 |