nsv3918839
- 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:1,835,477
- Description:GRCh38/hg38 22q12.1-12.2(chr22:28441035-30276511)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: 5414 SVs from 101 studies. See in: genome view
Overlapping variant regions from other studies: 5415 SVs from 101 studies. See in: genome view
Overlapping variant regions from other studies: 1232 SVs from 26 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3918839 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000022.11 | Chr22 | 28,441,035 | 30,276,511 |
| nsv3918839 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 28,837,023 | 30,672,500 |
| nsv3918839 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000022.9 | Chr22 | 27,167,023 | 29,002,500 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15134332 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000052871.5, VCV000059074.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15134332 | Submitted genomic | NC_000022.11:g.(?_ 28441035)_(3027651 1_?)del | GRCh38 (hg38) | NC_000022.11 | Chr22 | 28,441,035 | 30,276,511 |
| nssv15134332 | Submitted genomic | NC_000022.10:g.(?_ 28837023)_(3067250 0_?)del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 28,837,023 | 30,672,500 |
| nssv15134332 | Submitted genomic | NC_000022.9:g.(?_2 7167023)_(29002500 _?)del | NCBI36 (hg18) | NC_000022.9 | Chr22 | 27,167,023 | 29,002,500 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15134332 | GRCh37: NC_000022.10:g.(?_28837023)_(30672500_?)del, GRCh38: NC_000022.11:g.(?_28441035)_(30276511_?)del, NCBI36: NC_000022.9:g.(?_27167023)_(29002500_?)del | copy number loss | de novo | See cases | Pathogenic | ClinVar | RCV000052871.5, VCV000059074.1 | 1 |