nsv6637546
- 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:6,557,878
- Description:GRCh37/hg19 20q11.21-11.23(chr20:29652122-35603726)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: 17983 SVs from 111 studies. See in: genome view
Overlapping variant regions from other studies: 16886 SVs from 109 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6637546 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 30,417,446 | 36,975,323 |
| nsv6637546 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 29,652,122 | 35,603,726 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18329174 | copy number gain | Multiple | Multiple | not provided | Likely pathogenic | ClinVar | RCV002475651.1, VCV001809278.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18329174 | Remapped | Pass | NC_000020.11:g.(?_ 30417446)_(3697532 3_?)dup | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 30,417,446 | 36,975,323 |
| nssv18329174 | Submitted genomic | NC_000020.10:g.(?_ 29652122)_(3560372 6_?)dup | GRCh37 (hg19) | NC_000020.10 | Chr20 | 29,652,122 | 35,603,726 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18329174 | GRCh37: NC_000020.10:g.(?_29652122)_(35603726_?)dup | copy number gain | unknown | not provided | Likely pathogenic | ClinVar | RCV002475651.1, VCV001809278.1 | 3 |