nsv3911150
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:3,679,259
- Description:GRCh38/hg38 11q11-12.1(chr11:55319519-58998777)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: 12256 SVs from 129 studies. See in: genome view
Overlapping variant regions from other studies: 12263 SVs from 129 studies. See in: genome view
Overlapping variant regions from other studies: 3365 SVs from 39 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3911150 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 55,319,519 | 58,998,777 |
| nsv3911150 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 55,086,995 | 58,766,250 |
| nsv3911150 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000011.8 | Chr11 | 54,843,571 | 58,522,826 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15137877 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000142757.4, VCV000154690.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15137877 | Submitted genomic | NC_000011.10:g.(?_ 55319519)_(5899877 7_?)dup | GRCh38 (hg38) | NC_000011.10 | Chr11 | 55,319,519 | 58,998,777 |
| nssv15137877 | Submitted genomic | NC_000011.9:g.(?_5 5086995)_(58766250 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 55,086,995 | 58,766,250 |
| nssv15137877 | Submitted genomic | NC_000011.8:g.(?_5 4843571)_(58522826 _?)dup | NCBI36 (hg18) | NC_000011.8 | Chr11 | 54,843,571 | 58,522,826 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15137877 | GRCh37: NC_000011.9:g.(?_55086995)_(58766250_?)dup, GRCh38: NC_000011.10:g.(?_55319519)_(58998777_?)dup, NCBI36: NC_000011.8:g.(?_54843571)_(58522826_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000142757.4, VCV000154690.2 | 3 |