nsv3913986
- 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:386,603
- Description:GRCh38/hg38 20q11.22(chr20:35051855-35438457)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: 1351 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 1354 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 258 SVs from 10 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3913986 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000020.11 | Chr20 | 35,051,855 | 35,438,457 |
| nsv3913986 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 33,639,658 | 34,026,249 |
| nsv3913986 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000020.9 | Chr20 | 33,103,319 | 33,489,663 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15122688 | copy number loss | Multiple | Multiple | See cases | Likely pathogenic | ClinVar | RCV000141041.3, VCV000152501.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15122688 | Submitted genomic | NC_000020.11:g.(?_ 35051855)_(3543845 7_?)del | GRCh38 (hg38) | NC_000020.11 | Chr20 | 35,051,855 | 35,438,457 |
| nssv15122688 | Submitted genomic | NC_000020.10:g.(?_ 33639658)_(3402624 9_?)del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 33,639,658 | 34,026,249 |
| nssv15122688 | Submitted genomic | NC_000020.9:g.(?_3 3103319)_(33489663 _?)del | NCBI36 (hg18) | NC_000020.9 | Chr20 | 33,103,319 | 33,489,663 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15122688 | GRCh37: NC_000020.10:g.(?_33639658)_(34026249_?)del, GRCh38: NC_000020.11:g.(?_35051855)_(35438457_?)del, NCBI36: NC_000020.9:g.(?_33103319)_(33489663_?)del | copy number loss | not provided | See cases | Likely pathogenic | ClinVar | RCV000141041.3, VCV000152501.1 | 1 |