nsv3913230
- 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:7,204,476
- Description:GRCh38/hg38 11q23.2-23.3(chr11:113444446-120648921)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: 17926 SVs from 103 studies. See in: genome view
Overlapping variant regions from other studies: 17940 SVs from 103 studies. See in: genome view
Overlapping variant regions from other studies: 4472 SVs from 27 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3913230 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 113,444,446 | 120,648,921 |
| nsv3913230 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 113,315,168 | 120,519,630 |
| nsv3913230 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000011.8 | Chr11 | 112,820,378 | 120,024,840 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15132266 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000050627.4, VCV000057036.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15132266 | Submitted genomic | NC_000011.10:g.(?_ 113444446)_(120648 921_?)dup | GRCh38 (hg38) | NC_000011.10 | Chr11 | 113,444,446 | 120,648,921 |
| nssv15132266 | Submitted genomic | NC_000011.9:g.(?_1 13315168)_(1205196 30_?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 113,315,168 | 120,519,630 |
| nssv15132266 | Submitted genomic | NC_000011.8:g.(?_1 12820378)_(1200248 40_?)dup | NCBI36 (hg18) | NC_000011.8 | Chr11 | 112,820,378 | 120,024,840 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15132266 | GRCh37: NC_000011.9:g.(?_113315168)_(120519630_?)dup, GRCh38: NC_000011.10:g.(?_113444446)_(120648921_?)dup, NCBI36: NC_000011.8:g.(?_112820378)_(120024840_?)dup | copy number gain | de novo | See cases | Pathogenic | ClinVar | RCV000050627.4, VCV000057036.1 | 3 |