nsv5564316
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:1,305
- Description:NM_000455.5(STK11):c.-2_290+1013del AND Generalized juvenile polyposis/juvenile polyposis coli
- Publication(s):Hampel et al. 2014, Kalia et al. 2016, Larsen Haidle et al. 2003, Miller et al. 2021, No authors et al. 2020, No authors et al. 2021, Syngal et al. 2015, Trepanier et al. 2004
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 246 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 246 SVs from 40 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv5564316 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 1,206,912 | 1,208,216 |
| nsv5564316 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 1,206,911 | 1,208,215 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17059344 | deletion | Multiple | Multiple | Generalized juvenile polyposis/juvenile polyposis coli; Generalized juvenile polyposis/juvenile polyposis coli; Juvenile Polyposis Syndrome | Pathogenic | ClinVar | RCV001358560.1, VCV001050750.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv17059344 | Submitted genomic | NC_000019.10:g.120 6912_1208216del | GRCh38 (hg38) | NC_000019.10 | Chr19 | 1,206,912 | 1,208,216 |
| nssv17059344 | Submitted genomic | NC_000019.9:g.1206 911_1208215del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 1,206,911 | 1,208,215 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17059344 | GRCh37: NC_000019.9:g.1206911_1208215del, GRCh38: NC_000019.10:g.1206912_1208216del | deletion | unknown | Generalized juvenile polyposis/juvenile polyposis coli; Generalized juvenile polyposis/juvenile polyposis coli; Juvenile Polyposis Syndrome | Pathogenic | ClinVar | RCV001358560.1, VCV001050750.2 |