nsv4682667
- 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:530,681
- Description:NC_000018.9:g.(?_28647971)_(29178648_?)dup AND Amyloidogenic transthyretin amyloidosis
- Publication(s):Authors/Task Force members et al. 2014, Berk et al. 2013, Miller et al. 2022, Sekijima et al. 2001
- ClinVar: RCV001033848.1
- ClinVar: VCV000833405.1
- GeneReviews: NBK1194
- MONDO: 0007100
- MedGen: C2751492
- OMIM: 105210
- OMIM: 176300.0001
- OMIM: 176300.0002
- OMIM: 176300.0003
- OMIM: 176300.0004
- OMIM: 176300.0005
- OMIM: 176300.0006
- OMIM: 176300.0007
- OMIM: 176300.0009
- OMIM: 176300.0010
- OMIM: 176300.0011
- OMIM: 176300.0012
- OMIM: 176300.0013
- OMIM: 176300.0014
- OMIM: 176300.0016
- OMIM: 176300.0019
- OMIM: 176300.0020
- OMIM: 176300.0021
- OMIM: 176300.0022
- OMIM: 176300.0023
- OMIM: 176300.0024
- OMIM: 176300.0025
- OMIM: 176300.0026
- OMIM: 176300.0027
- OMIM: 176300.0028
- OMIM: 176300.0029
- OMIM: 176300.0030
- OMIM: 176300.0031
- OMIM: 176300.0032
- OMIM: 176300.0034
- OMIM: 176300.0035
- OMIM: 176300.0037
- OMIM: 176300.0039
- OMIM: 176300.0040
- OMIM: 176300.0041
- OMIM: 176300.0042
- OMIM: 176300.0043
- OMIM: 176300.0044
- OMIM: 176300.0045
- OMIM: 176300.0052
- Orphanet: 85447
- Orphanet: 85451
- PubMed: 20301373
- PubMed: 24368466
- PubMed: 25173338
- 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: 1614 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 1614 SVs from 83 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4682667 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 31,068,005 | 31,598,685 |
| nsv4682667 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000018.9 | Chr18 | 28,647,971 | 29,178,648 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16212828 | duplication | Multiple | Multiple | AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED; ATTRV122I amyloidosis; ATTRV30M amyloidosis; Amyloidogenic transthyretin amyloidosis; Hereditary Transthyretin Amyloidosis; See individual phenotypes in OMIM allelic variants | Uncertain significance | ClinVar | RCV001033848.1, VCV000833405.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16212828 | Remapped | Good | NC_000018.10:g.(?_ 31068005)_(3159868 5_?)dup | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 31,068,005 | 31,598,685 |
| nssv16212828 | Submitted genomic | NC_000018.9:g.(?_2 8647971)_(29178648 _?)dup | GRCh37 (hg19) | NC_000018.9 | Chr18 | 28,647,971 | 29,178,648 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16212828 | GRCh37: NC_000018.9:g.(?_28647971)_(29178648_?)dup | duplication | germline | AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED; ATTRV122I amyloidosis; ATTRV30M amyloidosis; Amyloidogenic transthyretin amyloidosis; Hereditary Transthyretin Amyloidosis; See individual phenotypes in OMIM allelic variants | Uncertain significance | ClinVar | RCV001033848.1, VCV000833405.1 |