nsv4350471
- 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:757
- Description:GRCh37/hg19 10q23.31(chr10:89653441-89654197) AND Cowden syndrome 1
- Publication(s):Eng et al. 2001, Hampel et al. 2014, Lu et al. 2014, Miller et al. 2021, Miller et al. 2022, 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: 135 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 52 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 135 SVs from 35 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4350471 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 87,893,684 | 87,894,440 |
| nsv4350471 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_013171807.1 | Chr10|NW_0 13171807.1 | 109,507 | 110,263 |
| nsv4350471 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 89,653,441 | 89,654,197 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15605813 | copy number loss | Multiple | Multiple | COWDEN SYNDROME 1; CWS1; Cowden syndrome 1; PTEN Hamartoma Tumor Syndrome | Pathogenic | ClinVar | RCV000767600.1, VCV000625592.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15605813 | Remapped | Perfect | NW_013171807.1:g.( ?_109507)_(110263_ ?)del | GRCh38.p12 | Second Pass | NW_013171807.1 | Chr10|NW_0 13171807.1 | 109,507 | 110,263 |
| nssv15605813 | Remapped | Perfect | NC_000010.11:g.(?_ 87893684)_(8789444 0_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 87,893,684 | 87,894,440 |
| nssv15605813 | Submitted genomic | NC_000010.10:g.(?_ 89653441)_(8965419 7_?)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 89,653,441 | 89,654,197 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15605813 | GRCh37: NC_000010.10:g.(?_89653441)_(89654197_?)del | copy number loss | de novo | COWDEN SYNDROME 1; CWS1; Cowden syndrome 1; PTEN Hamartoma Tumor Syndrome | Pathogenic | ClinVar | RCV000767600.1, VCV000625592.1 |