nsv6637976
- 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:1,091,975
- Description:GRCh37/hg19 11q25(chr11:133238757-134330730)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: 3351 SVs from 98 studies. See in: genome view
Overlapping variant regions from other studies: 3351 SVs from 98 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6637976 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 133,368,862 | 134,460,836 |
| nsv6637976 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 133,238,757 | 134,330,730 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18330431 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV002474691.1, VCV001808846.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18330431 | Remapped | Perfect | NC_000011.10:g.(?_ 133368862)_(134460 836_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 133,368,862 | 134,460,836 |
| nssv18330431 | Submitted genomic | NC_000011.9:g.(?_1 33238757)_(1343307 30_?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 133,238,757 | 134,330,730 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18330431 | GRCh37: NC_000011.9:g.(?_133238757)_(134330730_?)dup | copy number gain | unknown | not provided | Uncertain significance | ClinVar | RCV002474691.1, VCV001808846.1 | 3 |