nsv6291285
- 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:263,766
- Description:GRCh37/hg19 11q24.2(chr11:124296335-124560100)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: 603 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 603 SVs from 51 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6291285 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 124,426,439 | 124,690,204 |
| nsv6291285 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 124,296,335 | 124,560,100 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17956598 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001827776.1, VCV001340368.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17956598 | Remapped | Perfect | NC_000011.10:g.(?_ 124426439)_(124690 204_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 124,426,439 | 124,690,204 |
| nssv17956598 | Submitted genomic | NC_000011.9:g.(?_1 24296335)_(1245601 00_?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 124,296,335 | 124,560,100 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17956598 | GRCh37: NC_000011.9:g.(?_124296335)_(124560100_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001827776.1, VCV001340368.1 | 3 |