nsv5564516
- 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:3,287,138
- Description:GRCh37/hg19 6q21(chr6:109796301-113083437)x3 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: 7485 SVs from 112 studies. See in: genome view
Overlapping variant regions from other studies: 7487 SVs from 112 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5564516 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 109,475,098 | 112,762,235 |
| nsv5564516 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 109,796,301 | 113,083,437 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17059486 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV001353182.1, VCV001048615.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17059486 | Remapped | Perfect | NC_000006.12:g.(10 9475098_?)_(?_1127 62235)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 109,475,098 | 112,762,235 |
| nssv17059486 | Submitted genomic | NC_000006.11:g.(10 9796301_?)_(?_1130 83437)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 109,796,301 | 113,083,437 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17059486 | GRCh37: NC_000006.11:g.(109796301_?)_(?_113083437)dup | copy number gain | de novo | See cases | Uncertain significance | ClinVar | RCV001353182.1, VCV001048615.1 | 3 |