nsv7097677
- 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:375,552
- Description:NC_000009.11:g.(?_104124710)_(104500261_?)del AND Hereditary fructosuria
- Publication(s):Baker et al. 2015
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 1098 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 1098 SVs from 79 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7097677 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 101,362,428 | 101,737,979 |
| nsv7097677 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 104,124,710 | 104,500,261 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18791005 | deletion | Multiple | Multiple | FRUCTOSE INTOLERANCE, HEREDITARY; Fructose intolerance; Hereditary Fructose Intolerance; Hereditary fructose intolerance; Hereditary fructosuria | Pathogenic | ClinVar | RCV003119110.2, VCV002422164.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18791005 | Remapped | Perfect | NC_000009.12:g.(?_ 101362428)_(101737 979_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 101,362,428 | 101,737,979 |
| nssv18791005 | Submitted genomic | NC_000009.11:g.(?_ 104124710)_(104500 261_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 104,124,710 | 104,500,261 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18791005 | GRCh37: NC_000009.11:g.(?_104124710)_(104500261_?)del | deletion | germline | FRUCTOSE INTOLERANCE, HEREDITARY; Fructose intolerance; Hereditary Fructose Intolerance; Hereditary fructose intolerance; Hereditary fructosuria | Pathogenic | ClinVar | RCV003119110.2, VCV002422164.3 |