nsv4683513
- 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:5,922
- Description:NC_000010.11:g.(?_87952108)_(87958029_?)del AND PTEN hamartoma tumor syndrome
- Publication(s):ACMG Board of Directors et al. 2014, Daly et al. 2014, Eng et al. 2001, Green et al. 2013, Kalia et al. 2016, No authors et al. 2020, No authors et al. 2021, No authors et al. 2021, No authors et al. 2021, Saslow et al. 2007, Schaefer et al. 2013, Syngal et al. 2015
- ClinVar: RCV001033437.5
- ClinVar: VCV000832971.5
- GeneReviews: NBK1488
- MONDO: 0017623
- MeSH: D006223
- MedGen: C1959582
- PubMed: 17392385
- PubMed: 20301661
- PubMed: 23519317
- PubMed: 23788249
- PubMed: 25190698
- PubMed: 25356965
- PubMed: 25645574
- PubMed: 26389210
- PubMed: 26389258
- PubMed: 26389333
- PubMed: 26389505
- PubMed: 27854360
- Overlapping Genes
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 89 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 12 SVs from 8 studies. See in: genome view
Overlapping variant regions from other studies: 89 SVs from 20 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4683513 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 87,952,108 | 87,958,029 |
| nsv4683513 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_013171807.1 | Chr10|NW_0 13171807.1 | 167,897 | 173,818 |
| nsv4683513 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 89,711,865 | 89,717,786 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16214502 | deletion | Multiple | Multiple | Hamartoma Syndrome, Multiple; PTEN Hamartoma Tumor Syndrome; PTEN hamartoma tumor syndrome | Likely pathogenic | ClinVar | RCV001033437.5, VCV000832971.5 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16214502 | Remapped | Perfect | NW_013171807.1:g.( ?_167897)_(173818_ ?)del | GRCh38.p12 | Second Pass | NW_013171807.1 | Chr10|NW_0 13171807.1 | 167,897 | 173,818 |
| nssv16214502 | Remapped | Perfect | NC_000010.11:g.(?_ 87952108)_(8795802 9_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 87,952,108 | 87,958,029 |
| nssv16214502 | Submitted genomic | NC_000010.10:g.(?_ 89711865)_(8971778 6_?)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 89,711,865 | 89,717,786 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16214502 | GRCh37: NC_000010.10:g.(?_89711865)_(89717786_?)del | deletion | germline | Hamartoma Syndrome, Multiple; PTEN Hamartoma Tumor Syndrome; PTEN hamartoma tumor syndrome | Likely pathogenic | ClinVar | RCV001033437.5, VCV000832971.5 |