nsv7095620
- 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:9,276
- Description:NC_000001.10:g.(?_45800053)_(45809328_?)dup AND Familial adenomatous polyposis 2
- Publication(s):ACMG Board of Directors et al. 2014, Green et al. 2013, Hampel et al. 2014, Hegde et al. 2013, Kalia et al. 2016, Miller et al. 2021, Miller et al. 2022, Nielsen et al. 2012, No authors et al. 2020, No authors et al. 2021, Stoffel et al. 2014, Syngal et al. 2015
- ClinVar: RCV003105466.2
- ClinVar: VCV002423773.2
- GeneReviews: NBK107219
- MONDO: 0012041
- MedGen: C3272841
- OMIM: 608456
- Orphanet: 220460
- PubMed: 23035301
- PubMed: 23788249
- PubMed: 24310308
- PubMed: 25356965
- PubMed: 25394175
- PubMed: 25452455
- PubMed: 25645574
- PubMed: 26389258
- PubMed: 26389505
- PubMed: 27854360
- 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: 126 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 126 SVs from 27 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7095620 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 45,334,381 | 45,343,656 |
| nsv7095620 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 45,800,053 | 45,809,328 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18791569 | duplication | Multiple | Multiple | Attenuated familial adenomatous polyposis; FAMILIAL ADENOMATOUS POLYPOSIS 2; FAP2; MUTYH-Associated Polyposis; myh-associated polyposis | Uncertain significance | ClinVar | RCV003105466.2, VCV002423773.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18791569 | Remapped | Perfect | NC_000001.11:g.(?_ 45334381)_(4534365 6_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 45,334,381 | 45,343,656 |
| nssv18791569 | Submitted genomic | NC_000001.10:g.(?_ 45800053)_(4580932 8_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 45,800,053 | 45,809,328 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18791569 | GRCh37: NC_000001.10:g.(?_45800053)_(45809328_?)dup | duplication | germline | Attenuated familial adenomatous polyposis; FAMILIAL ADENOMATOUS POLYPOSIS 2; FAP2; MUTYH-Associated Polyposis; myh-associated polyposis | Uncertain significance | ClinVar | RCV003105466.2, VCV002423773.2 |