nsv7137072
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:172
- Description:NC_000016.10:g.(?_68737292)_(68737463_?)del AND Hereditary diffuse gastric adenocarcinoma
- Publication(s):Blair et al. 2020, Hampel et al. 2014, Kaurah et al. 2002, Kluijt et al. 2012, No authors et al. 2021, No authors et al. 2021, Robson et al. 2010, Robson et al. 2015, Saslow et al. 2007, Syngal et al. 2015
- ClinVar: RCV003229761.1
- ClinVar: VCV002503027.1
- GeneReviews: NBK1139
- MONDO: 0007648
- MedGen: C1708349
- OMIM: 137215
- Orphanet: 26106
- PubMed: 17392385
- PubMed: 20065170
- PubMed: 20301318
- PubMed: 22388873
- PubMed: 25394175
- PubMed: 25645574
- PubMed: 26324357
- PubMed: 26389210
- PubMed: 26389258
- PubMed: 32758476
- 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: 68 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 68 SVs from 23 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7137072 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000016.10 | Chr16 | 68,737,292 | 68,737,463 | ||
| nsv7137072 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000016.9 | Chr16 | 68,771,195 | 68,771,366 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18830848 | deletion | Multiple | Multiple | GASTRIC CANCER, HEREDITARY DIFFUSE; HDGC; Hereditary Diffuse Gastric Cancer; Hereditary diffuse gastric cancer; Hereditary diffuse gastric cancer | Likely pathogenic | ClinVar | RCV003229761.1, VCV002503027.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18830848 | Submitted genomic | NC_000016.10:g.(?_ 68737292)_(6873746 3_?)del | GRCh38 (hg38) | NC_000016.10 | Chr16 | 68,737,292 | 68,737,463 | ||
| nssv18830848 | Remapped | Perfect | NC_000016.9:g.(?_6 8771195)_(68771366 _?)del | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 68,771,195 | 68,771,366 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18830848 | GRCh38: NC_000016.10:g.(?_68737292)_(68737463_?)del | deletion | germline | GASTRIC CANCER, HEREDITARY DIFFUSE; HDGC; Hereditary Diffuse Gastric Cancer; Hereditary diffuse gastric cancer; Hereditary diffuse gastric cancer | Likely pathogenic | ClinVar | RCV003229761.1, VCV002503027.1 |