nsv5673389
- 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:9,400
- Description:NC_000019.9:g.(?_36317274)_(36326673_?)del AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 142 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 142 SVs from 28 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 |
---|---|---|---|---|---|---|---|---|---|
nsv5673389 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 35,826,372 | 35,835,771 |
nsv5673389 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 36,317,274 | 36,326,673 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv17172787 | deletion | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001384235.6, VCV001071713.6 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17172787 | Remapped | Perfect | NC_000019.10:g.(?_ 35826372)_(3583577 1_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 35,826,372 | 35,835,771 |
nssv17172787 | Submitted genomic | NC_000019.9:g.(?_3 6317274)_(36326673 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 36,317,274 | 36,326,673 |
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 |
---|---|---|---|---|---|---|---|
nssv17172787 | GRCh37: NC_000019.9:g.(?_36317274)_(36326673_?)del | deletion | germline | not provided | Pathogenic | ClinVar | RCV001384235.6, VCV001071713.6 |