nsv4673933
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:536,978
- Description:GRCh37/hg19 4q35.1(chr4:185211828-185748806)x3 AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 1811 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 1813 SVs from 83 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4673933 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 184,290,675 | 184,827,652 |
| nsv4673933 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 185,211,828 | 185,748,806 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16206742 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001005629.1, VCV000814639.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16206742 | Remapped | Perfect | NC_000004.12:g.(?_ 184290675)_(184827 652_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 184,290,675 | 184,827,652 |
| nssv16206742 | Submitted genomic | NC_000004.11:g.(?_ 185211828)_(185748 806_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 185,211,828 | 185,748,806 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16206742 | GRCh37: NC_000004.11:g.(?_185211828)_(185748806_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001005629.1, VCV000814639.1 | 3 |