nsv4457669
- 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:363,179
- Description:GRCh37/hg19 20q13.2(chr20:50018612-50381792)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: 1237 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 1240 SVs from 65 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4457669 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 51,402,075 | 51,765,253 |
| nsv4457669 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 50,018,612 | 50,381,792 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15776337 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV000849113.2, VCV000688422.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15776337 | Remapped | Good | NC_000020.11:g.(?_ 51402075)_(5176525 3_?)dup | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 51,402,075 | 51,765,253 |
| nssv15776337 | Submitted genomic | NC_000020.10:g.(?_ 50018612)_(5038179 2_?)dup | GRCh37 (hg19) | NC_000020.10 | Chr20 | 50,018,612 | 50,381,792 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15776337 | GRCh37: NC_000020.10:g.(?_50018612)_(50381792_?)dup | copy number gain | unknown | not provided | Uncertain significance | ClinVar | RCV000849113.2, VCV000688422.2 | 3 |