nsv3920692
- 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:554,897
- Description:
GRCh38/hg38 20p13(chr20:2526755-3081651)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: 2316 SVs from 90 studies. See in: genome view
Overlapping variant regions from other studies: 2316 SVs from 90 studies. See in: genome view
Overlapping variant regions from other studies: 518 SVs from 23 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3920692 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000020.11 | Chr20 | 2,526,755 | 3,081,651 |
| nsv3920692 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 2,507,401 | 3,062,297 |
| nsv3920692 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000020.9 | Chr20 | 2,455,401 | 3,010,297 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15149006 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000143472.5, VCV000155405.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15149006 | Submitted genomic | NC_000020.11:g.(?_ 2526755)_(3081651_ ?)dup | GRCh38 (hg38) | NC_000020.11 | Chr20 | 2,526,755 | 3,081,651 |
| nssv15149006 | Submitted genomic | NC_000020.10:g.(?_ 2507401)_(3062297_ ?)dup | GRCh37 (hg19) | NC_000020.10 | Chr20 | 2,507,401 | 3,062,297 |
| nssv15149006 | Submitted genomic | NC_000020.9:g.(?_2 455401)_(3010297_? )dup | NCBI36 (hg18) | NC_000020.9 | Chr20 | 2,455,401 | 3,010,297 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15149006 | GRCh37: NC_000020.10:g.(?_2507401)_(3062297_?)dup, GRCh38: NC_000020.11:g.(?_2526755)_(3081651_?)dup, NCBI36: NC_000020.9:g.(?_2455401)_(3010297_?)dup | copy number gain | paternal | See cases | Uncertain significance | ClinVar | RCV000143472.5, VCV000155405.2 | 3 |