nsv3883666
- 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:1,150,216
- Description:GRCh37/hg19 3q21.3-22.1(chr3:128660985-129811200)x1 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: 3795 SVs from 100 studies. See in: genome view
Overlapping variant regions from other studies: 3795 SVs from 100 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3883666 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 128,942,142 | 130,092,357 |
| nsv3883666 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 128,660,985 | 129,811,200 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15153511 | copy number loss | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV000682304.1, VCV000562815.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15153511 | Remapped | Perfect | NC_000003.12:g.(?_ 128942142)_(130092 357_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 128,942,142 | 130,092,357 |
| nssv15153511 | Submitted genomic | NC_000003.11:g.(?_ 128660985)_(129811 200_?)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 128,660,985 | 129,811,200 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15153511 | GRCh37: NC_000003.11:g.(?_128660985)_(129811200_?)del | copy number loss | germline | not provided | Uncertain significance | ClinVar | RCV000682304.1, VCV000562815.1 | 1 |