nsv6315510
- 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:1,058,410
- Description:GRCh37/hg19 19p13.3(chr19:260911-1319319) AND Peutz-Jeghers syndrome
- Publication(s):ACMG Board of Directors et al. 2014, Goggins et al. 2020, Green et al. 2013, Hampel et al. 2014, Kalia et al. 2016, McGarrity et al. 2001, Miller et al. 2021, Miller et al. 2022, No authors et al. 2020, No authors et al. 2021, No authors et al. 2021, Syngal et al. 2015, Trepanier et al. 2004
- ClinVar: RCV002280635.1
- ClinVar: VCV001703549.1
- GeneReviews: NBK1266
- MONDO: 0008280
- MeSH: D010580
- MedGen: C0031269
- OMIM: 175200
- Orphanet: 2869
- PubMed: 15604628
- PubMed: 20301443
- PubMed: 23788249
- PubMed: 25356965
- PubMed: 25394175
- PubMed: 25645574
- PubMed: 26389210
- PubMed: 26389258
- PubMed: 26389505
- PubMed: 27854360
- PubMed: 31672839
- PubMed: 34012068
- PubMed: 35802134
- 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: 9897 SVs from 106 studies. See in: genome view
Overlapping variant regions from other studies: 9897 SVs from 106 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6315510 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 260,911 | 1,319,320 |
| nsv6315510 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 260,911 | 1,319,319 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17976968 | copy number loss | Multiple | Multiple | PEUTZ-JEGHERS SYNDROME; PJS; Peutz-Jeghers Syndrome; Peutz-Jeghers Syndrome; Peutz-Jeghers syndrome; Peutz-Jeghers syndrome | Pathogenic | ClinVar | RCV002280635.1, VCV001703549.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17976968 | Remapped | Perfect | NC_000019.10:g.(?_ 260911)_(1319320_? )del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 260,911 | 1,319,320 |
| nssv17976968 | Submitted genomic | NC_000019.9:g.(?_2 60911)_(1319319_?) del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 260,911 | 1,319,319 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17976968 | GRCh37: NC_000019.9:g.(?_260911)_(1319319_?)del | copy number loss | unknown | PEUTZ-JEGHERS SYNDROME; PJS; Peutz-Jeghers Syndrome; Peutz-Jeghers Syndrome; Peutz-Jeghers syndrome; Peutz-Jeghers syndrome | Pathogenic | ClinVar | RCV002280635.1, VCV001703549.1 |