nsv3922231
- 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:366,926
- Description:GRCh38/hg38 20q13.13(chr20:49098782-49465707)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: 1304 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 1304 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 317 SVs from 14 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3922231 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000020.11 | Chr20 | 49,098,782 | 49,465,707 |
| nsv3922231 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 47,715,319 | 48,082,244 |
| nsv3922231 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000020.9 | Chr20 | 47,148,726 | 47,515,651 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15121756 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000135367.3, VCV000146041.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15121756 | Submitted genomic | NC_000020.11:g.(?_ 49098782)_(4946570 7_?)dup | GRCh38 (hg38) | NC_000020.11 | Chr20 | 49,098,782 | 49,465,707 |
| nssv15121756 | Submitted genomic | NC_000020.10:g.(?_ 47715319)_(4808224 4_?)dup | GRCh37 (hg19) | NC_000020.10 | Chr20 | 47,715,319 | 48,082,244 |
| nssv15121756 | Submitted genomic | NC_000020.9:g.(?_4 7148726)_(47515651 _?)dup | NCBI36 (hg18) | NC_000020.9 | Chr20 | 47,148,726 | 47,515,651 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15121756 | GRCh37: NC_000020.10:g.(?_47715319)_(48082244_?)dup, GRCh38: NC_000020.11:g.(?_49098782)_(49465707_?)dup, NCBI36: NC_000020.9:g.(?_47148726)_(47515651_?)dup | copy number gain | not provided | See cases | Uncertain significance | ClinVar | RCV000135367.3, VCV000146041.1 | 3 |