nsv7148186
- 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:10,176,539
- Description:GRCh37/hg19 20q13.2-13.33(chr20:52773668-62965020)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: 37069 SVs from 128 studies. See in: genome view
Overlapping variant regions from other studies: 36977 SVs from 128 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7148186 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 54,157,129 | 64,333,667 |
| nsv7148186 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 52,773,668 | 62,965,020 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18842025 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV003329549.1, VCV002580344.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18842025 | Remapped | Good | NC_000020.11:g.(?_ 54157129)_(6433366 7_?)dup | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 54,157,129 | 64,333,667 |
| nssv18842025 | Submitted genomic | NC_000020.10:g.(?_ 52773668)_(6296502 0_?)dup | GRCh37 (hg19) | NC_000020.10 | Chr20 | 52,773,668 | 62,965,020 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18842025 | GRCh37: NC_000020.10:g.(?_52773668)_(62965020_?)dup | copy number gain | unknown | See cases | Uncertain significance | ClinVar | RCV003329549.1, VCV002580344.1 | 3 |