nsv5672533
- 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:11,490
- Description:NC_000010.10:g.(?_88671987)_(88683476_?)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: 138 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 138 SVs from 34 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 |
---|---|---|---|---|---|---|---|---|---|
nsv5672533 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 86,912,230 | 86,923,719 |
nsv5672533 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 88,671,987 | 88,683,476 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv17172203 | deletion | Multiple | Multiple | JUVENILE POLYPOSIS SYNDROME; JPS; Juvenile Polyposis Syndrome; Juvenile polyposis syndrome; Juvenile polyposis syndrome | Likely pathogenic | ClinVar | RCV001378402.6, VCV001067205.7 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17172203 | Remapped | Perfect | NC_000010.11:g.(?_ 86912230)_(8692371 9_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 86,912,230 | 86,923,719 |
nssv17172203 | Submitted genomic | NC_000010.10:g.(?_ 88671987)_(8868347 6_?)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 88,671,987 | 88,683,476 |
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 |
---|---|---|---|---|---|---|---|
nssv17172203 | GRCh37: NC_000010.10:g.(?_88671987)_(88683476_?)del | deletion | germline | JUVENILE POLYPOSIS SYNDROME; JPS; Juvenile Polyposis Syndrome; Juvenile polyposis syndrome; Juvenile polyposis syndrome | Likely pathogenic | ClinVar | RCV001378402.6, VCV001067205.7 |