nsv3924778
- 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:7,524,682
- Description:GRCh38/hg38 11p12-11.2(chr11:41118322-48643003)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: 19717 SVs from 119 studies. See in: genome view
Overlapping variant regions from other studies: 19723 SVs from 119 studies. See in: genome view
Overlapping variant regions from other studies: 5162 SVs from 32 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3924778 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 41,118,322 | 48,643,003 |
| nsv3924778 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 41,139,872 | 48,664,555 |
| nsv3924778 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000011.8 | Chr11 | 41,096,448 | 48,621,131 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161319 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000135405.4, VCV000146079.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15161319 | Submitted genomic | NC_000011.10:g.(?_ 41118322)_(4864300 3_?)del | GRCh38 (hg38) | NC_000011.10 | Chr11 | 41,118,322 | 48,643,003 |
| nssv15161319 | Submitted genomic | NC_000011.9:g.(?_4 1139872)_(48664555 _?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 41,139,872 | 48,664,555 |
| nssv15161319 | Submitted genomic | NC_000011.8:g.(?_4 1096448)_(48621131 _?)del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 41,096,448 | 48,621,131 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15161319 | GRCh37: NC_000011.9:g.(?_41139872)_(48664555_?)del, GRCh38: NC_000011.10:g.(?_41118322)_(48643003_?)del, NCBI36: NC_000011.8:g.(?_41096448)_(48621131_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000135405.4, VCV000146079.2 | 1 |