nsv6636758
- 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:634,908
- Description:GRCh37/hg19 3p21.1(chr3:52783975-53418893)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: 2018 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 2020 SVs from 96 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6636758 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 52,749,959 | 53,384,866 |
| nsv6636758 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 52,783,975 | 53,418,893 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18330131 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV002473863.1, VCV001808546.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18330131 | Remapped | Good | NC_000003.12:g.(?_ 52749959)_(5338486 6_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 52,749,959 | 53,384,866 |
| nssv18330131 | Submitted genomic | NC_000003.11:g.(?_ 52783975)_(5341889 3_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 52,783,975 | 53,418,893 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18330131 | GRCh37: NC_000003.11:g.(?_52783975)_(53418893_?)dup | copy number gain | unknown | not provided | Uncertain significance | ClinVar | RCV002473863.1, VCV001808546.1 | 3 |