nsv6291242
- 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:272,754
- Description:GRCh37/hg19 9q21.33-22.1(chr9:90336741-90609494)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: 1010 SVs from 86 studies. See in: genome view
Overlapping variant regions from other studies: 1010 SVs from 86 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6291242 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 87,721,826 | 87,994,579 |
| nsv6291242 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 90,336,741 | 90,609,494 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17957503 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001827710.1, VCV001340226.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17957503 | Remapped | Perfect | NC_000009.12:g.(?_ 87721826)_(8799457 9_?)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 87,721,826 | 87,994,579 |
| nssv17957503 | Submitted genomic | NC_000009.11:g.(?_ 90336741)_(9060949 4_?)dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 90,336,741 | 90,609,494 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17957503 | GRCh37: NC_000009.11:g.(?_90336741)_(90609494_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001827710.1, VCV001340226.1 | 3 |