nsv6634397
- 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:19,402,622
- Description:GRCh37/hg19 7p22.3-21.1(chr7:43360-19485604)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: 70839 SVs from 138 studies. See in: genome view
Overlapping variant regions from other studies: 70879 SVs from 138 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6634397 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 43,360 | 19,445,981 |
| nsv6634397 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 43,360 | 19,485,604 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18326424 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV002287567.1, VCV001708194.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18326424 | Remapped | Good | NC_000007.14:g.(43 360_?)_(?_19445981 )dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 43,360 | 19,445,981 |
| nssv18326424 | Submitted genomic | NC_000007.13:g.(43 360_?)_(?_19485604 )dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 43,360 | 19,485,604 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18326424 | GRCh37: NC_000007.13:g.(43360_?)_(?_19485604)dup | copy number gain | unknown | See cases | Pathogenic | ClinVar | RCV002287567.1, VCV001708194.1 | 3 |