nsv6636534
- 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:1,941,927
- Description:GRCh37/hg19 4p16.3(chr4:963688-2913553)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: 9019 SVs from 106 studies. See in: genome view
Overlapping variant regions from other studies: 8889 SVs from 106 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6636534 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 969,900 | 2,911,826 |
| nsv6636534 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 963,688 | 2,913,553 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18330201 | copy number gain | Multiple | Multiple | not provided | Likely pathogenic | ClinVar | RCV002473933.1, VCV001808616.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18330201 | Remapped | Good | NC_000004.12:g.(?_ 969900)_(2911826_? )dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 969,900 | 2,911,826 |
| nssv18330201 | Submitted genomic | NC_000004.11:g.(?_ 963688)_(2913553_? )dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 963,688 | 2,913,553 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18330201 | GRCh37: NC_000004.11:g.(?_963688)_(2913553_?)dup | copy number gain | unknown | not provided | Likely pathogenic | ClinVar | RCV002473933.1, VCV001808616.1 | 3 |