nsv6315085
- 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:13,519
- Description:GRCh37/hg19 22q13.33(chr22:51207204-51220722)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: 62 SVs from 18 studies. See in: genome view
Overlapping variant regions from other studies: 50 SVs from 13 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6315085 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 50,768,776 | 50,782,294 |
| nsv6315085 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 51,207,204 | 51,220,722 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17976510 | copy number loss | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV002263306.5, VCV001695056.6 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17976510 | Remapped | Perfect | NC_000022.11:g.(?_ 50768776)_(5078229 4_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 50,768,776 | 50,782,294 |
| nssv17976510 | Submitted genomic | NC_000022.10:g.(?_ 51207204)_(5122072 2_?)del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 51,207,204 | 51,220,722 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17976510 | GRCh37: NC_000022.10:g.(?_51207204)_(51220722_?)del | copy number loss | germline | not provided | Uncertain significance | ClinVar | RCV002263306.5, VCV001695056.6 | 1 |