nsv6309898
- 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:58,954
- Description:NC_000016.9:g.(?_89818536)_(89877489_?)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: 481 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 481 SVs from 49 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6309898 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 89,752,128 | 89,811,081 |
| nsv6309898 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 89,818,536 | 89,877,489 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17972060 | deletion | Multiple | Multiple | FANCONI ANEMIA, COMPLEMENTATION GROUP A; FANCA; Fanconi Anemia; Fanconi Anemia; Fanconi anemia; Fanconi anemia; Fanconi anemia | Pathogenic | ClinVar | RCV001963253.4, VCV001460207.4 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17972060 | Remapped | Perfect | NC_000016.10:g.(?_ 89752128)_(8981108 1_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 89,752,128 | 89,811,081 |
| nssv17972060 | Submitted genomic | NC_000016.9:g.(?_8 9818536)_(89877489 _?)del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 89,818,536 | 89,877,489 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17972060 | GRCh37: NC_000016.9:g.(?_89818536)_(89877489_?)del | deletion | germline | FANCONI ANEMIA, COMPLEMENTATION GROUP A; FANCA; Fanconi Anemia; Fanconi Anemia; Fanconi anemia; Fanconi anemia; Fanconi anemia | Pathogenic | ClinVar | RCV001963253.4, VCV001460207.4 |