nsv3924464
- 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:7,701,246
- Description:GRCh38/hg38 11q22.1-22.3(chr11:98357901-106059146)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: 21137 SVs from 124 studies. See in: genome view
Overlapping variant regions from other studies: 21144 SVs from 124 studies. See in: genome view
Overlapping variant regions from other studies: 5704 SVs from 34 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3924464 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 98,357,901 | 106,059,146 |
| nsv3924464 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 98,228,629 | 105,929,873 |
| nsv3924464 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000011.8 | Chr11 | 97,733,839 | 105,435,083 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15135452 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000136574.4, VCV000147379.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15135452 | Submitted genomic | NC_000011.10:g.(?_ 98357901)_(1060591 46_?)del | GRCh38 (hg38) | NC_000011.10 | Chr11 | 98,357,901 | 106,059,146 |
| nssv15135452 | Submitted genomic | NC_000011.9:g.(?_9 8228629)_(10592987 3_?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 98,228,629 | 105,929,873 |
| nssv15135452 | Submitted genomic | NC_000011.8:g.(?_9 7733839)_(10543508 3_?)del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 97,733,839 | 105,435,083 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15135452 | GRCh37: NC_000011.9:g.(?_98228629)_(105929873_?)del, GRCh38: NC_000011.10:g.(?_98357901)_(106059146_?)del, NCBI36: NC_000011.8:g.(?_97733839)_(105435083_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000136574.4, VCV000147379.2 | 1 |