nsv6637514
- 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:387,859
- Description:GRCh37/hg19 20q11.21(chr20:30299729-30687587)x3 AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 923 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 923 SVs from 65 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6637514 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 31,711,926 | 32,099,784 |
| nsv6637514 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 30,299,729 | 30,687,587 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18330436 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV002474696.1, VCV001808851.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18330436 | Remapped | Perfect | NC_000020.11:g.(?_ 31711926)_(3209978 4_?)dup | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 31,711,926 | 32,099,784 |
| nssv18330436 | Submitted genomic | NC_000020.10:g.(?_ 30299729)_(3068758 7_?)dup | GRCh37 (hg19) | NC_000020.10 | Chr20 | 30,299,729 | 30,687,587 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18330436 | GRCh37: NC_000020.10:g.(?_30299729)_(30687587_?)dup | copy number gain | unknown | not provided | Uncertain significance | ClinVar | RCV002474696.1, VCV001808851.1 | 3 |