nsv5564433
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:152
- Description:
NM_000249.4(MLH1):c.1410-2_1558+1del 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: 53 SVs from 15 studies. See in: genome view
Overlapping variant regions from other studies: 53 SVs from 15 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv5564433 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 37,028,782 | 37,028,933 |
| nsv5564433 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 37,070,273 | 37,070,424 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17059376 | deletion | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001357801.1, VCV001050410.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv17059376 | Submitted genomic | NC_000003.12:g.370 28782_37028933del | GRCh38 (hg38) | NC_000003.12 | Chr3 | 37,028,782 | 37,028,933 |
| nssv17059376 | Submitted genomic | NC_000003.11:g.370 70273_37070424del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 37,070,273 | 37,070,424 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17059376 | GRCh37: NC_000003.11:g.37070273_37070424del, GRCh38: NC_000003.12:g.37028782_37028933del | deletion | unknown | not provided | Uncertain significance | ClinVar | RCV001357801.1, VCV001050410.1 |