nsv3912982
- 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:5,310,611
- Description:GRCh38/hg38 20q13.2-13.33(chr20:55630597-60941207)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: 14279 SVs from 113 studies. See in: genome view
Overlapping variant regions from other studies: 14170 SVs from 113 studies. See in: genome view
Overlapping variant regions from other studies: 3400 SVs from 30 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3912982 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000020.11 | Chr20 | 55,630,597 | 60,941,207 |
| nsv3912982 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 54,220,678 | 59,516,263 |
| nsv3912982 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000020.9 | Chr20 | 53,639,062 | 58,949,658 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15134185 | copy number gain | Multiple | Multiple | See cases | Likely pathogenic | ClinVar | RCV000135622.4, VCV000146317.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15134185 | Submitted genomic | NC_000020.11:g.(?_ 55630597)_(6094120 7_?)dup | GRCh38 (hg38) | NC_000020.11 | Chr20 | 55,630,597 | 60,941,207 |
| nssv15134185 | Submitted genomic | NC_000020.10:g.(?_ 54220678)_(5951626 3_?)dup | GRCh37 (hg19) | NC_000020.10 | Chr20 | 54,220,678 | 59,516,263 |
| nssv15134185 | Submitted genomic | NC_000020.9:g.(?_5 3639062)_(58949658 _?)dup | NCBI36 (hg18) | NC_000020.9 | Chr20 | 53,639,062 | 58,949,658 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15134185 | GRCh37: NC_000020.10:g.(?_54220678)_(59516263_?)dup, GRCh38: NC_000020.11:g.(?_55630597)_(60941207_?)dup, NCBI36: NC_000020.9:g.(?_53639062)_(58949658_?)dup | copy number gain | not provided | See cases | Likely pathogenic | ClinVar | RCV000135622.4, VCV000146317.2 | 3 |