nsv3923375
- 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:18,147,155
- Description:GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)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: 47407 SVs from 127 studies. See in: genome view
Overlapping variant regions from other studies: 47424 SVs from 128 studies. See in: genome view
Overlapping variant regions from other studies: 12481 SVs from 37 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3923375 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 116,851,372 | 134,998,526 |
| nsv3923375 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 116,722,088 | 134,868,420 |
| nsv3923375 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000011.8 | Chr11 | 116,227,298 | 134,373,630 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15133110 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000134064.6, VCV000144588.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15133110 | Submitted genomic | NC_000011.10:g.(?_ 116851372)_(134998 526_?)dup | GRCh38 (hg38) | NC_000011.10 | Chr11 | 116,851,372 | 134,998,526 |
| nssv15133110 | Submitted genomic | NC_000011.9:g.(?_1 16722088)_(1348684 20_?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 116,722,088 | 134,868,420 |
| nssv15133110 | Submitted genomic | NC_000011.8:g.(?_1 16227298)_(1343736 30_?)dup | NCBI36 (hg18) | NC_000011.8 | Chr11 | 116,227,298 | 134,373,630 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15133110 | GRCh37: NC_000011.9:g.(?_116722088)_(134868420_?)dup, GRCh38: NC_000011.10:g.(?_116851372)_(134998526_?)dup, NCBI36: NC_000011.8:g.(?_116227298)_(134373630_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000134064.6, VCV000144588.2 | 3 |