nsv7098474
- 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:341
- Description:NC_000009.11:g.(?_80881338)_(80881678_?)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: 61 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 61 SVs from 20 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 |
---|---|---|---|---|---|---|---|---|---|
nsv7098474 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 78,266,422 | 78,266,762 |
nsv7098474 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 80,881,338 | 80,881,678 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv18787523 | deletion | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV003122521.2, VCV002423689.2 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18787523 | Remapped | Perfect | NC_000009.12:g.(?_ 78266422)_(7826676 2_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 78,266,422 | 78,266,762 |
nssv18787523 | Submitted genomic | NC_000009.11:g.(?_ 80881338)_(8088167 8_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 80,881,338 | 80,881,678 |
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 |
---|---|---|---|---|---|---|---|
nssv18787523 | GRCh37: NC_000009.11:g.(?_80881338)_(80881678_?)del | deletion | germline | not provided | Uncertain significance | ClinVar | RCV003122521.2, VCV002423689.2 |