nsv3918536
- 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:10,793,302
- Description:GRCh38/hg38 11q24.2-25(chr11:124205225-134998526)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: 29377 SVs from 124 studies. See in: genome view
Overlapping variant regions from other studies: 29381 SVs from 125 studies. See in: genome view
Overlapping variant regions from other studies: 8026 SVs from 35 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3918536 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 124,205,225 | 134,998,526 |
| nsv3918536 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 124,075,932 | 134,868,420 |
| nsv3918536 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000011.8 | Chr11 | 123,581,142 | 134,373,630 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15133149 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000134731.6, VCV000145337.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15133149 | Submitted genomic | NC_000011.10:g.(?_ 124205225)_(134998 526_?)del | GRCh38 (hg38) | NC_000011.10 | Chr11 | 124,205,225 | 134,998,526 |
| nssv15133149 | Submitted genomic | NC_000011.9:g.(?_1 24075932)_(1348684 20_?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 124,075,932 | 134,868,420 |
| nssv15133149 | Submitted genomic | NC_000011.8:g.(?_1 23581142)_(1343736 30_?)del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 123,581,142 | 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 |
|---|---|---|---|---|---|---|---|---|
| nssv15133149 | GRCh37: NC_000011.9:g.(?_124075932)_(134868420_?)del, GRCh38: NC_000011.10:g.(?_124205225)_(134998526_?)del, NCBI36: NC_000011.8:g.(?_123581142)_(134373630_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000134731.6, VCV000145337.2 | 1 |