nsv5381377
- 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:493,700
- Description:NC_000005.9:g.(?_178770758)_(179263603_?)dup AND multiple conditions
- Publication(s):Cruts et al. 2015, Kinsley et al. 2001
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 2674 SVs from 99 studies. See in: genome view
Overlapping variant regions from other studies: 1831 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 2674 SVs from 99 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5381377 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 179,343,757 | 179,836,603 |
| nsv5381377 | Remapped | Good | GRCh38.p12 | PATCHES | Second Pass | NW_016107298.1 | Chr5|NW_01 6107298.1 | 108,464 | 602,163 |
| nsv5381377 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 178,770,758 | 179,263,603 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16866889 | duplication | Multiple | Multiple | Amyotrophic lateral sclerosis and/or frontotemporal dementia 1; C9orf72-Related Amyotrophic Lateral Sclerosis and Frontotemporal Dementia; FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 1; FTDALS1; Frontotemporal dementia with motor neuron disease; PAGET DISEASE OF BONE 2, EARLY-ONSET; PDB2; Paget disease of bone 2, early-onset; Server error < EMBL-EBI | Uncertain significance | ClinVar | RCV001323035.1, VCV001023048.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16866889 | Remapped | Good | NW_016107298.1:g.( ?_108464)_(602163_ ?)dup | GRCh38.p12 | Second Pass | NW_016107298.1 | Chr5|NW_01 6107298.1 | 108,464 | 602,163 |
| nssv16866889 | Remapped | Perfect | NC_000005.10:g.(?_ 179343757)_(179836 603_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 179,343,757 | 179,836,603 |
| nssv16866889 | Submitted genomic | NC_000005.9:g.(?_1 78770758)_(1792636 03_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 178,770,758 | 179,263,603 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16866889 | GRCh37: NC_000005.9:g.(?_178770758)_(179263603_?)dup | duplication | germline | Amyotrophic lateral sclerosis and/or frontotemporal dementia 1; C9orf72-Related Amyotrophic Lateral Sclerosis and Frontotemporal Dementia; FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 1; FTDALS1; Frontotemporal dementia with motor neuron disease; PAGET DISEASE OF BONE 2, EARLY-ONSET; PDB2; Paget disease of bone 2, early-onset; Server error < EMBL-EBI | Uncertain significance | ClinVar | RCV001323035.1, VCV001023048.1 |