nsv5060046
- 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:5,832
- Description:NM_000314.8(PTEN):c.634+1985_802-819inv 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: 90 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 90 SVs from 22 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv5060046 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000010.11 | Chr10 | 87,954,244 | 87,960,075 |
| nsv5060046 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 89,714,001 | 89,719,832 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15773667 | inversion | Multiple | Multiple | Hereditary cancer-predisposing syndrome; Neoplastic Syndromes, Hereditary | Uncertain significance | ClinVar | RCV000850148.1, VCV000689436.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv15773667 | Submitted genomic | NC_000010.11:g.879 54244_87960075inv5 832 | GRCh38 (hg38) | NC_000010.11 | Chr10 | 87,954,244 | 87,960,075 |
| nssv15773667 | Submitted genomic | NC_000010.10:g.897 14001_89719832inv5 832 | GRCh37 (hg19) | NC_000010.10 | Chr10 | 89,714,001 | 89,719,832 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15773667 | GRCh37: NC_000010.10:g.89714001_89719832inv5832, GRCh38: NC_000010.11:g.87954244_87960075inv5832 | inversion | germline | Hereditary cancer-predisposing syndrome; Neoplastic Syndromes, Hereditary | Uncertain significance | ClinVar | RCV000850148.1, VCV000689436.1 |