nsv5381285
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:128,412,237
- Description:
See descriptions for individual calls in download files - 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, Hyde et al. 2008, 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: RCV001300221.3
- ClinVar: RCV001341077.3
- ClinVar: VCV001003645.3
- GeneReviews: NBK1548
- GeneReviews: NBK3789
- HP: 0006780
- HP: 0100723
- MONDO: 0011544
- MONDO: 0011719
- MONDO: 0012004
- MeSH: D046152
- MedGen: C0238198
- MedGen: C0687150
- MedGen: C1854336
- OMIM: 605373
- OMIM: 606764
- OMIM: 608266
- Orphanet: 143
- Orphanet: 29072
- Orphanet: 44890
- PubMed: 20065170
- PubMed: 20301715
- PubMed: 20301744
- 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: 272268 SVs from 154 studies. See in: genome view
Overlapping variant regions from other studies: 269245 SVs from 154 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5381285 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 120,324,463 | 248,736,699 |
| nsv5381285 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 130,980,840 | 248,900,000 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16867097 | 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 | RCV001300221.3, VCV001003645.3 |
| nssv16867170 | duplication | Multiple | Multiple | CDC73-Related Disorders; PARATHYROID CARCINOMA; Parathyroid carcinoma; Parathyroid carcinoma; Parathyroid carcinoma | Uncertain significance | ClinVar | RCV001341077.3, VCV001003645.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16867097 | Remapped | Pass | NC_000001.11:g.(?_ 120324463)_(248736 699_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 120,324,463 | 248,736,699 |
| nssv16867170 | Remapped | Pass | NC_000001.11:g.(?_ 120324463)_(248736 699_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 120,324,463 | 248,736,699 |
| nssv16867097 | Submitted genomic | NC_000001.10:g.(?_ 130980840)_(248900 000_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 130,980,840 | 248,900,000 | ||
| nssv16867170 | Submitted genomic | NC_000001.10:g.(?_ 130980840)_(248900 000_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 130,980,840 | 248,900,000 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16867097 | GRCh37: NC_000001.10:g.(?_130980840)_(248900000_?)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 | RCV001300221.3, VCV001003645.3 |
| nssv16867170 | GRCh37: NC_000001.10:g.(?_130980840)_(248900000_?)dup | duplication | germline | CDC73-Related Disorders; PARATHYROID CARCINOMA; Parathyroid carcinoma; Parathyroid carcinoma; Parathyroid carcinoma | Uncertain significance | ClinVar | RCV001341077.3, VCV001003645.3 |