nsv6637649
- 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:596,903
- Description:GRCh37/hg19 9q34.13-34.2(chr9:135354006-135950908)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: 1959 SVs from 98 studies. See in: genome view
Overlapping variant regions from other studies: 1959 SVs from 98 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6637649 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 132,478,619 | 133,075,521 |
| nsv6637649 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 135,354,006 | 135,950,908 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18329915 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV002473647.1, VCV001808330.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18329915 | Remapped | Perfect | NC_000009.12:g.(?_ 132478619)_(133075 521_?)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 132,478,619 | 133,075,521 |
| nssv18329915 | Submitted genomic | NC_000009.11:g.(?_ 135354006)_(135950 908_?)dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 135,354,006 | 135,950,908 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18329915 | GRCh37: NC_000009.11:g.(?_135354006)_(135950908_?)dup | copy number gain | unknown | not provided | Uncertain significance | ClinVar | RCV002473647.1, VCV001808330.1 | 3 |