nsv3924566
- 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:14,069,002
- Description:GRCh38/hg38 11q23.3-25(chr11:120507265-134576266)x1 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: 34839 SVs from 126 studies. See in: genome view
Overlapping variant regions from other studies: 34843 SVs from 127 studies. See in: genome view
Overlapping variant regions from other studies: 9258 SVs from 36 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3924566 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 120,507,265 | 134,576,266 |
| nsv3924566 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 120,377,974 | 134,446,160 |
| nsv3924566 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000011.8 | Chr11 | 119,883,184 | 133,951,370 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15134309 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000052716.6, VCV000058924.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15134309 | Submitted genomic | NC_000011.10:g.(?_ 120507265)_(134576 266_?)del | GRCh38 (hg38) | NC_000011.10 | Chr11 | 120,507,265 | 134,576,266 |
| nssv15134309 | Submitted genomic | NC_000011.9:g.(?_1 20377974)_(1344461 60_?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 120,377,974 | 134,446,160 |
| nssv15134309 | Submitted genomic | NC_000011.8:g.(?_1 19883184)_(1339513 70_?)del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 119,883,184 | 133,951,370 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15134309 | GRCh37: NC_000011.9:g.(?_120377974)_(134446160_?)del, GRCh38: NC_000011.10:g.(?_120507265)_(134576266_?)del, NCBI36: NC_000011.8:g.(?_119883184)_(133951370_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000052716.6, VCV000058924.1 | 1 |