nsv6637259
- 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:821,147
- Description:GRCh37/hg19 9q21.31-21.32(chr9:84027223-84848369)x3 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: 2007 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 2007 SVs from 82 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6637259 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 81,412,308 | 82,233,454 |
| nsv6637259 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 84,027,223 | 84,848,369 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18329214 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV002475691.1, VCV001809318.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18329214 | Remapped | Perfect | NC_000009.12:g.(?_ 81412308)_(8223345 4_?)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 81,412,308 | 82,233,454 |
| nssv18329214 | Submitted genomic | NC_000009.11:g.(?_ 84027223)_(8484836 9_?)dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 84,027,223 | 84,848,369 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18329214 | GRCh37: NC_000009.11:g.(?_84027223)_(84848369_?)dup | copy number gain | unknown | not provided | Uncertain significance | ClinVar | RCV002475691.1, VCV001809318.1 | 3 |