nsv6291672
- 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:1,267,389
- Description:GRCh37/hg19 20q11.21(chr20:29652122-30272637)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: 3030 SVs from 90 studies. See in: genome view
Overlapping variant regions from other studies: 1940 SVs from 86 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6291672 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 30,417,446 | 31,684,834 |
| nsv6291672 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 29,652,122 | 30,272,637 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17957286 | copy number gain | Multiple | Multiple | not provided | Likely benign | ClinVar | RCV001836495.1, VCV001340141.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17957286 | Remapped | Pass | NC_000020.11:g.(?_ 30417446)_(3168483 4_?)dup | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 30,417,446 | 31,684,834 |
| nssv17957286 | Submitted genomic | NC_000020.10:g.(?_ 29652122)_(3027263 7_?)dup | GRCh37 (hg19) | NC_000020.10 | Chr20 | 29,652,122 | 30,272,637 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17957286 | GRCh37: NC_000020.10:g.(?_29652122)_(30272637_?)dup | copy number gain | germline | not provided | Likely benign | ClinVar | RCV001836495.1, VCV001340141.1 | 3 |