nsv5380765
- 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:103,288
- Description:
NC_000015.9:g.(?_66679676)_(66782963_?)dup AND RASopathy
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 388 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 388 SVs from 50 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 |
---|---|---|---|---|---|---|---|---|---|
nsv5380765 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 66,387,338 | 66,490,625 |
nsv5380765 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 66,679,676 | 66,782,963 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv16865962 | duplication | Multiple | Multiple | RASopathy | Uncertain significance | ClinVar | RCV001295584.3, VCV000999571.3 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16865962 | Remapped | Perfect | NC_000015.10:g.(?_ 66387338)_(6649062 5_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 66,387,338 | 66,490,625 |
nssv16865962 | Submitted genomic | NC_000015.9:g.(?_6 6679676)_(66782963 _?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 66,679,676 | 66,782,963 |
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 |
---|---|---|---|---|---|---|---|
nssv16865962 | GRCh37: NC_000015.9:g.(?_66679676)_(66782963_?)dup | duplication | germline | RASopathy | Uncertain significance | ClinVar | RCV001295584.3, VCV000999571.3 |