nsv6137832
- 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:5,586
- Description:NC_000019.9:g.(1222006_1223105)_(1226494_12275
91)del 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: RCV001733368.3
- ClinVar: VCV001301325.3
- 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: 282 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 282 SVs from 38 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv6137832 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 1,222,007 | 1,223,106 | 1,226,495 | 1,227,592 |
| nsv6137832 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 1,222,006 | 1,223,105 | 1,226,494 | 1,227,591 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17683591 | deletion | Multiple | Multiple | PEUTZ-JEGHERS SYNDROME; PJS; Peutz-Jeghers Syndrome; Peutz-Jeghers Syndrome; Peutz-Jeghers syndrome; Peutz-Jeghers syndrome | Likely pathogenic | ClinVar | RCV001733368.3, VCV001301325.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv17683591 | Remapped | Perfect | NC_000019.10:g.(12 22007_1223106)_(12 26495_1227592)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 1,222,007 | 1,223,106 | 1,226,495 | 1,227,592 |
| nssv17683591 | Submitted genomic | NC_000019.9:g.(122 2006_1223105)_(122 6494_1227591)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 1,222,006 | 1,223,105 | 1,226,494 | 1,227,591 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17683591 | GRCh37: NC_000019.9:g.(1222006_1223105)_(1226494_1227591)del | deletion | germline | PEUTZ-JEGHERS SYNDROME; PJS; Peutz-Jeghers Syndrome; Peutz-Jeghers Syndrome; Peutz-Jeghers syndrome; Peutz-Jeghers syndrome | Likely pathogenic | ClinVar | RCV001733368.3, VCV001301325.3 |