nsv1398044
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:14,502,158
- Description:NC_000021.7:g.13636378_28138533dup AND multiple conditions
- Publication(s):Bird et al. 1998, Burgunder et al. 2010, Hort et al. 2010, Ismail et al. 2020, Lladó et al. 2014, Moore et al. 2014, Williams et al. 2010
- ClinVar: RCV000148341.1
- ClinVar: VCV000127268.1
- HP: 0002511
- MONDO: 0004975
- MONDO: 0011583
- MedGen: C0002395
- MedGen: C2751536
- OMIM: 605714
- Orphanet: 100006
- Orphanet: 1020
- Orphanet: 324703
- Orphanet: 324708
- Orphanet: 324713
- Orphanet: 324718
- Orphanet: 324723
- Orphanet: 85458
- PubMed: 20298421
- PubMed: 20301340
- PubMed: 20831773
- PubMed: 21500874
- PubMed: 24691562
- PubMed: 24829003
- PubMed: 32725777
- 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: 44509 SVs from 134 studies. See in: genome view
Overlapping variant regions from other studies: 44483 SVs from 134 studies. See in: genome view
Overlapping variant regions from other studies: 13001 SVs from 36 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv1398044 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 13,342,186 | 27,844,343 |
| nsv1398044 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 14,714,507 | 29,216,662 | ||
| nsv1398044 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000021.7 | Chr21 | 13,636,378 | 28,138,533 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv8639394 | duplication | Multiple | Multiple | ABeta amyloidosis, Arctic type; ABeta amyloidosis, Dutch type; ABeta amyloidosis, Iowa type; ABeta amyloidosis, Italian type; ABetaA21G amyloidosis; ABetaL34V amyloidosis; Alzheimer disease; Alzheimer disease; CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED; Cerebral amyloid angiopathy, APP-related; Early-onset autosomal dominant Alzheimer disease; Hereditary cerebral hemorrhage with amyloidosis | Pathogenic | ClinVar | RCV000148341.1, VCV000127268.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv8639394 | Remapped | Perfect | NC_000021.9:g.1334 2186_27844343dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 13,342,186 | 27,844,343 |
| nssv8639394 | Submitted genomic | NC_000021.8:g.1471 4507_29216662dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 14,714,507 | 29,216,662 | ||
| nssv8639394 | Submitted genomic | NC_000021.7:g.1363 6378_28138533dup | NCBI36 (hg18) | NC_000021.7 | Chr21 | 13,636,378 | 28,138,533 |
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 |
|---|---|---|---|---|---|---|---|
| nssv8639394 | GRCh37: NC_000021.8:g.14714507_29216662dup, NCBI36: NC_000021.7:g.13636378_28138533dup | duplication | germline | ABeta amyloidosis, Arctic type; ABeta amyloidosis, Dutch type; ABeta amyloidosis, Iowa type; ABeta amyloidosis, Italian type; ABetaA21G amyloidosis; ABetaL34V amyloidosis; Alzheimer disease; Alzheimer disease; CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED; Cerebral amyloid angiopathy, APP-related; Early-onset autosomal dominant Alzheimer disease; Hereditary cerebral hemorrhage with amyloidosis | Pathogenic | ClinVar | RCV000148341.1, VCV000127268.1 |