nsv4676332
- 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:6,233,171
- Description:GRCh37/hg19 20q13.31-13.33(chr20:55743522-62032989)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: 21608 SVs from 121 studies. See in: genome view
Overlapping variant regions from other studies: 21571 SVs from 121 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4676332 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 57,168,466 | 63,401,636 |
| nsv4676332 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 55,743,522 | 62,032,989 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16207427 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001007097.1, VCV000816131.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16207427 | Remapped | Good | NC_000020.11:g.(?_ 57168466)_(6340163 6_?)dup | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 57,168,466 | 63,401,636 |
| nssv16207427 | Submitted genomic | NC_000020.10:g.(?_ 55743522)_(6203298 9_?)dup | GRCh37 (hg19) | NC_000020.10 | Chr20 | 55,743,522 | 62,032,989 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16207427 | GRCh37: NC_000020.10:g.(?_55743522)_(62032989_?)dup | copy number gain | germline | not provided | Pathogenic | ClinVar | RCV001007097.1, VCV000816131.1 | 3 |