nsv4456476
- 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:894,361
- Description:GRCh37/hg19 9q21.13(chr9:76268525-77162885)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: 2122 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 2125 SVs from 78 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4456476 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 73,653,609 | 74,547,969 |
| nsv4456476 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 76,268,525 | 77,162,885 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15771957 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV000846098.2, VCV000685390.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15771957 | Remapped | Perfect | NC_000009.12:g.(?_ 73653609)_(7454796 9_?)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 73,653,609 | 74,547,969 |
| nssv15771957 | Submitted genomic | NC_000009.11:g.(?_ 76268525)_(7716288 5_?)dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 76,268,525 | 77,162,885 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15771957 | GRCh37: NC_000009.11:g.(?_76268525)_(77162885_?)dup | copy number gain | unknown | not provided | Uncertain significance | ClinVar | RCV000846098.2, VCV000685390.2 | 3 |