nsv5381688
- 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:6,812
- Description:NC_000009.11:g.(?_35072710)_(35079521_?)dup 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: 119 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 125 SVs from 26 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5381688 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 35,072,713 | 35,079,524 |
| nsv5381688 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 35,072,710 | 35,079,521 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16866987 | duplication | Multiple | Multiple | FANCONI ANEMIA, COMPLEMENTATION GROUP A; FANCA; Fanconi Anemia; Fanconi Anemia; Fanconi anemia; Fanconi anemia; Fanconi anemia | Uncertain significance | ClinVar | RCV001324794.2, VCV001024592.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16866987 | Remapped | Perfect | NC_000009.12:g.(?_ 35072713)_(3507952 4_?)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 35,072,713 | 35,079,524 |
| nssv16866987 | Submitted genomic | NC_000009.11:g.(?_ 35072710)_(3507952 1_?)dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 35,072,710 | 35,079,521 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16866987 | GRCh37: NC_000009.11:g.(?_35072710)_(35079521_?)dup | duplication | germline | FANCONI ANEMIA, COMPLEMENTATION GROUP A; FANCA; Fanconi Anemia; Fanconi Anemia; Fanconi anemia; Fanconi anemia; Fanconi anemia | Uncertain significance | ClinVar | RCV001324794.2, VCV001024592.2 |