nsv3910142
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:29,505,524
- Description:GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)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: 74979 SVs from 137 studies. See in: genome view
Overlapping variant regions from other studies: 71689 SVs from 137 studies. See in: genome view
Overlapping variant regions from other studies: 15997 SVs from 39 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3910142 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000020.11 | Chr20 | 9,811,433 | 39,316,956 |
| nsv3910142 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 9,792,081 | 37,945,599 |
| nsv3910142 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000020.9 | Chr20 | 9,740,081 | 37,379,013 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161048 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000052999.6, VCV000059195.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15161048 | Submitted genomic | NC_000020.11:g.(?_ 9811433)_(39316956 _?)dup | GRCh38 (hg38) | NC_000020.11 | Chr20 | 9,811,433 | 39,316,956 |
| nssv15161048 | Submitted genomic | NC_000020.10:g.(?_ 9792081)_(37945599 _?)dup | GRCh37 (hg19) | NC_000020.10 | Chr20 | 9,792,081 | 37,945,599 |
| nssv15161048 | Submitted genomic | NC_000020.9:g.(?_9 740081)_(37379013_ ?)dup | NCBI36 (hg18) | NC_000020.9 | Chr20 | 9,740,081 | 37,379,013 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15161048 | GRCh37: NC_000020.10:g.(?_9792081)_(37945599_?)dup, GRCh38: NC_000020.11:g.(?_9811433)_(39316956_?)dup, NCBI36: NC_000020.9:g.(?_9740081)_(37379013_?)dup | copy number gain | de novo | See cases | Pathogenic | ClinVar | RCV000052999.6, VCV000059195.1 | 3 |