nsv6291003
- 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:416,487
- Description:GRCh37/hg19 11q12.1(chr11:57037091-57453575)x3 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: 949 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 949 SVs from 61 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6291003 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 57,269,617 | 57,686,103 |
| nsv6291003 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 57,037,091 | 57,453,575 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17956070 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001829225.1, VCV001341252.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17956070 | Remapped | Perfect | NC_000011.10:g.(?_ 57269617)_(5768610 3_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 57,269,617 | 57,686,103 |
| nssv17956070 | Submitted genomic | NC_000011.9:g.(?_5 7037091)_(57453575 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 57,037,091 | 57,453,575 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17956070 | GRCh37: NC_000011.9:g.(?_57037091)_(57453575_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001829225.1, VCV001341252.1 | 3 |