nsv6289814
- 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:64,801
- Description:NM_000135.2(FANCA):c.(?_-42)_3066+281del AND Fanconi anemia complementation group A
- Publication(s):Alter et al. 2002, Scott et al. 2009
- 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 | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6289814 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 89,751,857 | 89,816,657 |
| nsv6289814 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 89,818,265 | 89,883,065 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17955636 | deletion | Multiple | Multiple | FANCONI ANEMIA, COMPLEMENTATION GROUP A; FANCA; Fanconi Anemia; Fanconi anemia; Fanconi anemia, complementation group A | Pathogenic | ClinVar | RCV001256430.1, VCV000974179.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17955636 | Remapped | Perfect | NC_000016.10:g.897 51857_89816657del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 89,751,857 | 89,816,657 |
| nssv17955636 | Submitted genomic | NC_000016.9:g.8981 8265_89883065del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 89,818,265 | 89,883,065 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17955636 | GRCh37: NC_000016.9:g.89818265_89883065del | deletion | germline | FANCONI ANEMIA, COMPLEMENTATION GROUP A; FANCA; Fanconi Anemia; Fanconi anemia; Fanconi anemia, complementation group A | Pathogenic | ClinVar | RCV001256430.1, VCV000974179.1 |