nsv3918438
- 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:997,298
- Description:GRCh38/hg38 4q26(chr4:118858868-119856165)x3 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: 3063 SVs from 94 studies. See in: genome view
Overlapping variant regions from other studies: 3063 SVs from 94 studies. See in: genome view
Overlapping variant regions from other studies: 884 SVs from 23 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3918438 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000004.12 | Chr4 | 118,858,868 | 119,856,165 |
| nsv3918438 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 119,780,023 | 120,777,320 |
| nsv3918438 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 119,999,471 | 120,996,768 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15136545 | copy number gain | Multiple | Multiple | See cases | Likely benign | ClinVar | RCV000139232.5, VCV000150371.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15136545 | Submitted genomic | NC_000004.12:g.(?_ 118858868)_(119856 165_?)dup | GRCh38 (hg38) | NC_000004.12 | Chr4 | 118,858,868 | 119,856,165 |
| nssv15136545 | Submitted genomic | NC_000004.11:g.(?_ 119780023)_(120777 320_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 119,780,023 | 120,777,320 |
| nssv15136545 | Submitted genomic | NC_000004.10:g.(?_ 119999471)_(120996 768_?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 119,999,471 | 120,996,768 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15136545 | GRCh37: NC_000004.11:g.(?_119780023)_(120777320_?)dup, GRCh38: NC_000004.12:g.(?_118858868)_(119856165_?)dup, NCBI36: NC_000004.10:g.(?_119999471)_(120996768_?)dup | copy number gain | maternal | See cases | Likely benign | ClinVar | RCV000139232.5, VCV000150371.2 | 3 |