nsv7097970
- 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:14,762
- Description:NC_000009.11:g.(?_97897618)_(97912379_?)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: 90 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 90 SVs from 30 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7097970 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 95,135,336 | 95,150,097 |
| nsv7097970 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 97,897,618 | 97,912,379 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18791244 | deletion | Multiple | Multiple | FANCONI ANEMIA, COMPLEMENTATION GROUP A; FANCA; Fanconi Anemia; Fanconi Anemia; Fanconi anemia; Fanconi anemia; Fanconi anemia | Pathogenic | ClinVar | RCV003119388.2, VCV002422436.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18791244 | Remapped | Perfect | NC_000009.12:g.(?_ 95135336)_(9515009 7_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 95,135,336 | 95,150,097 |
| nssv18791244 | Submitted genomic | NC_000009.11:g.(?_ 97897618)_(9791237 9_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 97,897,618 | 97,912,379 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18791244 | GRCh37: NC_000009.11:g.(?_97897618)_(97912379_?)del | deletion | germline | FANCONI ANEMIA, COMPLEMENTATION GROUP A; FANCA; Fanconi Anemia; Fanconi Anemia; Fanconi anemia; Fanconi anemia; Fanconi anemia | Pathogenic | ClinVar | RCV003119388.2, VCV002422436.2 |