nsv3871834
- 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:47,340,919
- Description:GRCh37/hg19 4q28.3-35.1(chr4:136912336-184253252)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: 131939 SVs from 146 studies. See in: genome view
Overlapping variant regions from other studies: 131945 SVs from 146 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3871834 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 135,991,181 | 183,332,099 |
| nsv3871834 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 136,912,336 | 184,253,252 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15124306 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000240245.1, VCV000253590.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15124306 | Remapped | Perfect | NC_000004.12:g.(?_ 135991181)_(183332 099_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 135,991,181 | 183,332,099 |
| nssv15124306 | Submitted genomic | NC_000004.11:g.(?_ 136912336)_(184253 252_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 136,912,336 | 184,253,252 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15124306 | GRCh37: NC_000004.11:g.(?_136912336)_(184253252_?)dup | copy number gain | unknown | See cases | Pathogenic | ClinVar | RCV000240245.1, VCV000253590.1 | 3 |