nsv5381272
- 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:46,787
- Description:
NC_000019.9:g.(?_4077097)_(4123882_?)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: 314 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 314 SVs from 61 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 |
---|---|---|---|---|---|---|---|---|---|
nsv5381272 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 4,077,099 | 4,123,885 |
nsv5381272 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 4,077,097 | 4,123,882 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv16866463 | duplication | Multiple | Multiple | RASopathy | Uncertain significance | ClinVar | RCV001309708.1, VCV001011850.1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16866463 | Remapped | Good | NC_000019.10:g.(?_ 4077099)_(4123885_ ?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 4,077,099 | 4,123,885 |
nssv16866463 | Submitted genomic | NC_000019.9:g.(?_4 077097)_(4123882_? )dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 4,077,097 | 4,123,882 |
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 |
---|---|---|---|---|---|---|---|
nssv16866463 | GRCh37: NC_000019.9:g.(?_4077097)_(4123882_?)dup | duplication | germline | RASopathy | Uncertain significance | ClinVar | RCV001309708.1, VCV001011850.1 |