nsv4450242
- 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:64,498
- Description:NC_000016.10:g.(?_89752128)_(89816625_?)del AND Fanconi anemia
- Publication(s):ACOG Committee on Genetics et al. 2009, Alter et al. 2002, Gross et al. 2008, No authors et al. 2021, No authors et al. 2021, No authors et al. 2021
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 534 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 534 SVs from 52 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv4450242 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000016.10 | Chr16 | 89,752,128 | 89,816,625 |
| nsv4450242 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 89,818,536 | 89,883,033 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15770245 | deletion | Multiple | Multiple | FANCONI ANEMIA, COMPLEMENTATION GROUP A; FANCA; Fanconi Anemia; Fanconi Anemia; Fanconi anemia; Fanconi anemia; Fanconi anemia | Pathogenic | ClinVar | RCV000800676.5, VCV000646402.5 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15770245 | Submitted genomic | NC_000016.10:g.(?_ 89752128)_(8981662 5_?)del | GRCh38 (hg38) | NC_000016.10 | Chr16 | 89,752,128 | 89,816,625 |
| nssv15770245 | Submitted genomic | NC_000016.9:g.(?_8 9818536)_(89883033 _?)del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 89,818,536 | 89,883,033 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15770245 | GRCh37: NC_000016.9:g.(?_89818536)_(89883033_?)del, GRCh38: NC_000016.10:g.(?_89752128)_(89816625_?)del | deletion | germline | FANCONI ANEMIA, COMPLEMENTATION GROUP A; FANCA; Fanconi Anemia; Fanconi Anemia; Fanconi anemia; Fanconi anemia; Fanconi anemia | Pathogenic | ClinVar | RCV000800676.5, VCV000646402.5 |