nsv3914413
- 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:18,981,557
- Description:GRCh38/hg38 20p13-11.23(chr20:89939-19071495)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: 59715 SVs from 136 studies. See in: genome view
Overlapping variant regions from other studies: 59731 SVs from 136 studies. See in: genome view
Overlapping variant regions from other studies: 14403 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 |
|---|---|---|---|---|---|---|---|
| nsv3914413 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000020.11 | Chr20 | 89,939 | 19,071,495 |
| nsv3914413 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 70,580 | 19,052,139 |
| nsv3914413 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000020.9 | Chr20 | 18,580 | 19,000,139 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15145781 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000052995.7, VCV000059191.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15145781 | Submitted genomic | NC_000020.11:g.(?_ 89939)_(19071495_? )dup | GRCh38 (hg38) | NC_000020.11 | Chr20 | 89,939 | 19,071,495 |
| nssv15145781 | Submitted genomic | NC_000020.10:g.(?_ 70580)_(19052139_? )dup | GRCh37 (hg19) | NC_000020.10 | Chr20 | 70,580 | 19,052,139 |
| nssv15145781 | Submitted genomic | NC_000020.9:g.(?_1 8580)_(19000139_?) dup | NCBI36 (hg18) | NC_000020.9 | Chr20 | 18,580 | 19,000,139 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15145781 | GRCh37: NC_000020.10:g.(?_70580)_(19052139_?)dup, GRCh38: NC_000020.11:g.(?_89939)_(19071495_?)dup, NCBI36: NC_000020.9:g.(?_18580)_(19000139_?)dup | copy number gain | de novo | See cases | Pathogenic | ClinVar | RCV000052995.7, VCV000059191.2 | 3 |