nsv3873046
- 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:87,730
- Description:GRCh37/hg19 3q26.32(chr3:176854043-176941772) AND not specified
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 436 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 436 SVs from 57 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3873046 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 177,136,255 | 177,223,984 |
| nsv3873046 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 176,854,043 | 176,941,772 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17969917 | copy number loss | Multiple | Multiple | not specified | Pathogenic | ClinVar | RCV002053389.3, VCV001527057.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17969917 | Remapped | Perfect | NC_000003.12:g.(?_ 177136255)_(177223 984_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 177,136,255 | 177,223,984 |
| nssv17969917 | Submitted genomic | NC_000003.11:g.(?_ 176854043)_(176941 772_?)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 176,854,043 | 176,941,772 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17969917 | GRCh37: NC_000003.11:g.(?_176854043)_(176941772_?)del | copy number loss | germline | not specified | Pathogenic | ClinVar | RCV002053389.3, VCV001527057.3 |