nsv5672692
- 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:37,230
- Description:NC_000010.10:g.(?_88598623)_(88635852_?)del AND Juvenile polyposis syndrome
- Publication(s):Larsen Haidle et al. 2003, Miller et al. 2022, No authors et al. 2020, 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: 201 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 201 SVs from 39 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 |
---|---|---|---|---|---|---|---|---|---|
nsv5672692 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 86,838,866 | 86,876,095 |
nsv5672692 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 88,598,623 | 88,635,852 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv17172009 | deletion | Multiple | Multiple | JUVENILE POLYPOSIS SYNDROME; JPS; Juvenile Polyposis Syndrome; Juvenile polyposis syndrome; Juvenile polyposis syndrome | Pathogenic | ClinVar | RCV001391044.6, VCV001076984.7 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17172009 | Remapped | Perfect | NC_000010.11:g.(?_ 86838866)_(8687609 5_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 86,838,866 | 86,876,095 |
nssv17172009 | Submitted genomic | NC_000010.10:g.(?_ 88598623)_(8863585 2_?)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 88,598,623 | 88,635,852 |
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 |
---|---|---|---|---|---|---|---|
nssv17172009 | GRCh37: NC_000010.10:g.(?_88598623)_(88635852_?)del | deletion | germline | JUVENILE POLYPOSIS SYNDROME; JPS; Juvenile Polyposis Syndrome; Juvenile polyposis syndrome; Juvenile polyposis syndrome | Pathogenic | ClinVar | RCV001391044.6, VCV001076984.7 |