nsv4455334
- 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:1,117,237
- Description:GRCh37/hg19 9p22.1-21.3(chr9:19536094-20653331)x1 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: 2649 SVs from 90 studies. See in: genome view
Overlapping variant regions from other studies: 2657 SVs from 91 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4455334 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 19,536,096 | 20,653,332 |
| nsv4455334 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 19,536,094 | 20,653,331 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15773143 | copy number loss | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV000849029.2, VCV000688338.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15773143 | Remapped | Perfect | NC_000009.12:g.(?_ 19536096)_(2065333 2_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 19,536,096 | 20,653,332 |
| nssv15773143 | Submitted genomic | NC_000009.11:g.(?_ 19536094)_(2065333 1_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 19,536,094 | 20,653,331 |
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 | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15773143 | GRCh37: NC_000009.11:g.(?_19536094)_(20653331_?)del | copy number loss | unknown | not provided | Uncertain significance | ClinVar | RCV000849029.2, VCV000688338.2 | 1 |