nsv3906682
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:658,165
- Description:GRCh37/hg19 20q13.13(chr20:47427610-48085774)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: 2142 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 2142 SVs from 76 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3906682 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 48,811,073 | 49,469,237 |
| nsv3906682 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 47,427,610 | 48,085,774 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15141656 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000510231.2, VCV000442309.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15141656 | Remapped | Perfect | NC_000020.11:g.(?_ 48811073)_(4946923 7_?)dup | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 48,811,073 | 49,469,237 |
| nssv15141656 | Submitted genomic | NC_000020.10:g.(?_ 47427610)_(4808577 4_?)dup | GRCh37 (hg19) | NC_000020.10 | Chr20 | 47,427,610 | 48,085,774 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15141656 | GRCh37: NC_000020.10:g.(?_47427610)_(48085774_?)dup | copy number gain | not provided | See cases | Uncertain significance | ClinVar | RCV000510231.2, VCV000442309.2 | 3 |