nsv6637063
- 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:6,586,046
- Description:GRCh37/hg19 4q11-12(chr4:52685980-59272025)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: 17674 SVs from 119 studies. See in: genome view
Overlapping variant regions from other studies: 17677 SVs from 119 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6637063 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 51,819,814 | 58,405,859 |
| nsv6637063 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 52,685,980 | 59,272,025 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18330047 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV002473779.1, VCV001808462.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18330047 | Remapped | Perfect | NC_000004.12:g.(?_ 51819814)_(5840585 9_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 51,819,814 | 58,405,859 |
| nssv18330047 | Submitted genomic | NC_000004.11:g.(?_ 52685980)_(5927202 5_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 52,685,980 | 59,272,025 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18330047 | GRCh37: NC_000004.11:g.(?_52685980)_(59272025_?)dup | copy number gain | unknown | not provided | Uncertain significance | ClinVar | RCV002473779.1, VCV001808462.1 | 3 |