nsv6636728
- 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:652,551
- Description:GRCh37/hg19 4q13.2(chr4:68485743-69138293)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: 1953 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 1953 SVs from 96 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6636728 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 67,620,025 | 68,272,575 |
| nsv6636728 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 68,485,743 | 69,138,293 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18330142 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV002473874.1, VCV001808557.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18330142 | Remapped | Perfect | NC_000004.12:g.(?_ 67620025)_(6827257 5_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 67,620,025 | 68,272,575 |
| nssv18330142 | Submitted genomic | NC_000004.11:g.(?_ 68485743)_(6913829 3_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 68,485,743 | 69,138,293 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18330142 | GRCh37: NC_000004.11:g.(?_68485743)_(69138293_?)dup | copy number gain | unknown | not provided | Uncertain significance | ClinVar | RCV002473874.1, VCV001808557.1 | 3 |