nsv3871428
- 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:1,773,174
- Description:GRCh37/hg19 3p14.1(chr3:65448161-67286083)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: 4486 SVs from 89 studies. See in: genome view
Overlapping variant regions from other studies: 4442 SVs from 89 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3871428 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 65,462,486 | 67,235,659 |
| nsv3871428 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 65,448,161 | 67,286,083 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15152852 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV000682267.2, VCV000562778.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15152852 | Remapped | Good | NC_000003.12:g.(?_ 65462486)_(6723565 9_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 65,462,486 | 67,235,659 |
| nssv15152852 | Submitted genomic | NC_000003.11:g.(?_ 65448161)_(6728608 3_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 65,448,161 | 67,286,083 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15152852 | GRCh37: NC_000003.11:g.(?_65448161)_(67286083_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV000682267.2, VCV000562778.2 | 3 |