nsv3871570
- 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:72,278
- Description:GRCh37/hg19 4p16.3(chr4:947035-1019312)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: 726 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 726 SVs from 68 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3871570 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 953,247 | 1,025,524 |
| nsv3871570 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 947,035 | 1,019,312 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15164297 | copy number gain | Multiple | Multiple | not provided | Benign | ClinVar | RCV000743183.2, VCV000606547.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15164297 | Remapped | Perfect | NC_000004.12:g.(?_ 953247)_(1025524_? )dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 953,247 | 1,025,524 |
| nssv15164297 | Submitted genomic | NC_000004.11:g.(?_ 947035)_(1019312_? )dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 947,035 | 1,019,312 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15164297 | GRCh37: NC_000004.11:g.(?_947035)_(1019312_?)dup | copy number gain | unknown | not provided | Benign | ClinVar | RCV000743183.2, VCV000606547.2 | 3 |