nsv4683645
- 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:545,639
- Description:NC_000001.11:g.(?_160816880)_(161362518_?)dup AND multiple conditions
- Publication(s):ACMG Board of Directors et al. 2014, Duffy et al. 2013, Else et al. 2008, Green et al. 2013, Hampel et al. 2014, Kalia et al. 2016, Lenders et al. 2014, Miller et al. 2021, Miller et al. 2022, Reaume et al. 2013, Robson et al. 2010, Robson et al. 2015, Rubinstein et al. 2010, Wong et al. 2012
- ClinVar: RCV001031279.2
- ClinVar: VCV000830661.1
- GeneReviews: NBK1548
- HP: 0100723
- MONDO: 0011544
- MONDO: 0011719
- MeSH: D046152
- MedGen: C0238198
- MedGen: C1854336
- OMIM: 605373
- OMIM: 606764
- Orphanet: 29072
- Orphanet: 44890
- PubMed: 20065170
- PubMed: 20301715
- PubMed: 20816580
- PubMed: 22685257
- PubMed: 23788249
- PubMed: 23852704
- PubMed: 24319509
- PubMed: 24893135
- PubMed: 25356965
- PubMed: 25394175
- PubMed: 26324357
- 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: 1814 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 1818 SVs from 85 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4683645 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 160,816,880 | 161,362,518 |
| nsv4683645 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 160,786,670 | 161,332,308 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16213180 | duplication | Multiple | Multiple | GASTROINTESTINAL STROMAL TUMOR; GIST; Gastrointestinal Stromal Tumors; Gastrointestinal stroma tumor; Gastrointestinal stroma tumor; Gastrointestinal stromal tumor; Hereditary Paraganglioma-Pheochromocytoma Syndromes; Hereditary pheochromocytoma-paraganglioma; PARAGANGLIOMAS 3; PGL3; Paragangliomas 3 | Uncertain significance | ClinVar | RCV001031279.2, VCV000830661.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16213180 | Remapped | Perfect | NC_000001.11:g.(?_ 160816880)_(161362 518_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 160,816,880 | 161,362,518 |
| nssv16213180 | Submitted genomic | NC_000001.10:g.(?_ 160786670)_(161332 308_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 160,786,670 | 161,332,308 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16213180 | GRCh37: NC_000001.10:g.(?_160786670)_(161332308_?)dup | duplication | germline | GASTROINTESTINAL STROMAL TUMOR; GIST; Gastrointestinal Stromal Tumors; Gastrointestinal stroma tumor; Gastrointestinal stroma tumor; Gastrointestinal stromal tumor; Hereditary Paraganglioma-Pheochromocytoma Syndromes; Hereditary pheochromocytoma-paraganglioma; PARAGANGLIOMAS 3; PGL3; Paragangliomas 3 | Uncertain significance | ClinVar | RCV001031279.2, VCV000830661.1 |