nsv6315500
- 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:1,208,584
- Description:
GRCh37/hg19 20p13(chr20:2802218-4010802)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: 4658 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 4659 SVs from 91 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6315500 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 2,821,572 | 4,030,155 |
| nsv6315500 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 2,802,218 | 4,010,802 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17977103 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV002285060.1, VCV001706505.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17977103 | Remapped | Perfect | NC_000020.11:g.(28 21572_?)_(?_403015 5)dup | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 2,821,572 | 4,030,155 |
| nssv17977103 | Submitted genomic | NC_000020.10:g.(28 02218_?)_(?_401080 2)dup | GRCh37 (hg19) | NC_000020.10 | Chr20 | 2,802,218 | 4,010,802 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17977103 | GRCh37: NC_000020.10:g.(2802218_?)_(?_4010802)dup | copy number gain | unknown | See cases | Uncertain significance | ClinVar | RCV002285060.1, VCV001706505.1 | 3 |