nsv6638079
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:inversion
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:872
- Description:NM_000038.6(APC):c.934-303_1312+190inv AND Hereditary cancer-predisposing syndrome
- Publication(s):Hampel et al. 2014
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 115 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 115 SVs from 21 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv6638079 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000005.10 | Chr5 | 112,818,663 | 112,819,534 |
| nsv6638079 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 112,154,360 | 112,155,231 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18328827 | inversion | Multiple | Multiple | Hereditary cancer-predisposing syndrome; Neoplastic Syndromes, Hereditary | Pathogenic | ClinVar | RCV002461487.2, VCV001800339.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv18328827 | Submitted genomic | NC_000005.10:g.112 818663_112819534in v872 | GRCh38 (hg38) | NC_000005.10 | Chr5 | 112,818,663 | 112,819,534 |
| nssv18328827 | Submitted genomic | NC_000005.9:g.1121 54360_112155231inv 872 | GRCh37 (hg19) | NC_000005.9 | Chr5 | 112,154,360 | 112,155,231 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18328827 | GRCh37: NC_000005.9:g.112154360_112155231inv872, GRCh38: NC_000005.10:g.112818663_112819534inv872 | inversion | germline | Hereditary cancer-predisposing syndrome; Neoplastic Syndromes, Hereditary | Pathogenic | ClinVar | RCV002461487.2, VCV001800339.2 |