nsv4451353
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:114,675
- Description:NC_000008.10:g.(?_30915954)_(31030628_?)dup AND Werner syndrome
- Publication(s):Hisama et al. 2012, No authors et al. 2021, No authors et al. 2021, Oshima et al. 2002
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 387 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 387 SVs from 40 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|
nsv4451353 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000008.11 | Chr8 | 31,058,438 | 31,173,112 |
nsv4451353 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 30,915,954 | 31,030,628 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv15774147 | duplication | Multiple | Multiple | WERNER SYNDROME; WRN; Werner Syndrome; Werner syndrome; Werner syndrome | Uncertain significance | ClinVar | RCV000823954.1, VCV000665630.1 |
Variant Call Placement Information
Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|
nssv15774147 | Submitted genomic | NC_000008.11:g.(?_ 31058438)_(3117311 2_?)dup | GRCh38 (hg38) | NC_000008.11 | Chr8 | 31,058,438 | 31,173,112 |
nssv15774147 | Submitted genomic | NC_000008.10:g.(?_ 30915954)_(3103062 8_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 30,915,954 | 31,030,628 |
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 |
---|---|---|---|---|---|---|---|
nssv15774147 | GRCh37: NC_000008.10:g.(?_30915954)_(31030628_?)dup, GRCh38: NC_000008.11:g.(?_31058438)_(31173112_?)dup | duplication | germline | WERNER SYNDROME; WRN; Werner Syndrome; Werner syndrome; Werner syndrome | Uncertain significance | ClinVar | RCV000823954.1, VCV000665630.1 |