nsv3910049
- 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:12,393,873
- Description:GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1 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: 32811 SVs from 126 studies. See in: genome view
Overlapping variant regions from other studies: 32826 SVs from 126 studies. See in: genome view
Overlapping variant regions from other studies: 7046 SVs from 38 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3910049 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000020.11 | Chr20 | 35,237,946 | 47,631,818 |
| nsv3910049 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 33,825,749 | 46,260,562 |
| nsv3910049 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000020.9 | Chr20 | 33,289,165 | 45,693,969 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15148150 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000140816.6, VCV000152212.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15148150 | Submitted genomic | NC_000020.11:g.(?_ 35237946)_(4763181 8_?)del | GRCh38 (hg38) | NC_000020.11 | Chr20 | 35,237,946 | 47,631,818 |
| nssv15148150 | Submitted genomic | NC_000020.10:g.(?_ 33825749)_(4626056 2_?)del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 33,825,749 | 46,260,562 |
| nssv15148150 | Submitted genomic | NC_000020.9:g.(?_3 3289165)_(45693969 _?)del | NCBI36 (hg18) | NC_000020.9 | Chr20 | 33,289,165 | 45,693,969 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15148150 | GRCh37: NC_000020.10:g.(?_33825749)_(46260562_?)del, GRCh38: NC_000020.11:g.(?_35237946)_(47631818_?)del, NCBI36: NC_000020.9:g.(?_33289165)_(45693969_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000140816.6, VCV000152212.2 | 1 |