nsv3911834
- 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:5,622,095
- Description:GRCh38/hg38 4q25-26(chr4:111069785-116691879)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: 15250 SVs from 123 studies. See in: genome view
Overlapping variant regions from other studies: 15250 SVs from 123 studies. See in: genome view
Overlapping variant regions from other studies: 3885 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 |
|---|---|---|---|---|---|---|---|
| nsv3911834 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000004.12 | Chr4 | 111,069,785 | 116,691,879 |
| nsv3911834 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 111,990,941 | 117,613,035 |
| nsv3911834 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 112,210,390 | 117,832,483 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15133891 | copy number loss | Multiple | Multiple | See cases | Likely pathogenic | ClinVar | RCV000134955.6, VCV000145621.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15133891 | Submitted genomic | NC_000004.12:g.(?_ 111069785)_(116691 879_?)del | GRCh38 (hg38) | NC_000004.12 | Chr4 | 111,069,785 | 116,691,879 |
| nssv15133891 | Submitted genomic | NC_000004.11:g.(?_ 111990941)_(117613 035_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 111,990,941 | 117,613,035 |
| nssv15133891 | Submitted genomic | NC_000004.10:g.(?_ 112210390)_(117832 483_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 112,210,390 | 117,832,483 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15133891 | GRCh37: NC_000004.11:g.(?_111990941)_(117613035_?)del, GRCh38: NC_000004.12:g.(?_111069785)_(116691879_?)del, NCBI36: NC_000004.10:g.(?_112210390)_(117832483_?)del | copy number loss | not provided | See cases | Likely pathogenic | ClinVar | RCV000134955.6, VCV000145621.2 | 1 |