nsv6637969
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:6,962,544
- Description:GRCh37/hg19 22q13.2-13.33(chr22:44178749-51183840)x1 AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 28018 SVs from 120 studies. See in: genome view
Overlapping variant regions from other studies: 27945 SVs from 120 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6637969 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 43,782,869 | 50,745,412 |
| nsv6637969 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 44,178,749 | 51,183,840 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18330762 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV002472623.1, VCV001807817.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18330762 | Remapped | Good | NC_000022.11:g.(?_ 43782869)_(5074541 2_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 43,782,869 | 50,745,412 |
| nssv18330762 | Submitted genomic | NC_000022.10:g.(?_ 44178749)_(5118384 0_?)del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 44,178,749 | 51,183,840 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18330762 | GRCh37: NC_000022.10:g.(?_44178749)_(51183840_?)del | copy number loss | unknown | not provided | Pathogenic | ClinVar | RCV002472623.1, VCV001807817.1 | 1 |