nsv4682344
- 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:42,961
- Description:
See descriptions for individual calls in download files - Publication(s):Doros et al. 2014
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 130 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 130 SVs from 34 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4682344 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 95,090,498 | 95,133,458 |
nsv4682344 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 95,556,835 | 95,599,795 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv16214463 | duplication | Multiple | Multiple | DICER1-Related Disorders; DICER1-related pleuropulmonary blastoma cancer predisposition syndrome | Uncertain significance | ClinVar | RCV001033336.3, VCV000832866.3 |
nssv17970835 | deletion | Multiple | Multiple | DICER1-Related Disorders; DICER1-related pleuropulmonary blastoma cancer predisposition syndrome | Pathogenic | ClinVar | RCV001946849.3, VCV001456307.3 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16214463 | Remapped | Perfect | NC_000014.9:g.(?_9 5090498)_(95133458 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 95,090,498 | 95,133,458 |
nssv17970835 | Remapped | Perfect | NC_000014.9:g.(?_9 5090498)_(95133458 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 95,090,498 | 95,133,458 |
nssv16214463 | Submitted genomic | NC_000014.8:g.(?_9 5556835)_(95599795 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 95,556,835 | 95,599,795 | ||
nssv17970835 | Submitted genomic | NC_000014.8:g.(?_9 5556835)_(95599795 _?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 95,556,835 | 95,599,795 |
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 |
---|---|---|---|---|---|---|---|
nssv16214463 | GRCh37: NC_000014.8:g.(?_95556835)_(95599795_?)dup | duplication | germline | DICER1-Related Disorders; DICER1-related pleuropulmonary blastoma cancer predisposition syndrome | Uncertain significance | ClinVar | RCV001033336.3, VCV000832866.3 |
nssv17970835 | GRCh37: NC_000014.8:g.(?_95556835)_(95599795_?)del | deletion | germline | DICER1-Related Disorders; DICER1-related pleuropulmonary blastoma cancer predisposition syndrome | Pathogenic | ClinVar | RCV001946849.3, VCV001456307.3 |