nsv6638036
- 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:5,754,979
- Description:GRCh37/hg19 9p24.3-24.1(chr9:203862-5958840)x4 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: 18787 SVs from 130 studies. See in: genome view
Overlapping variant regions from other studies: 18786 SVs from 129 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6638036 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 203,862 | 5,958,840 |
| nsv6638036 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 203,862 | 5,958,840 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18330804 | copy number gain | Multiple | Multiple | not provided | Likely pathogenic | ClinVar | RCV002472665.1, VCV001807859.1 | 4 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18330804 | Remapped | Perfect | NC_000009.12:g.(?_ 203862)_(5958840_? )dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 203,862 | 5,958,840 |
| nssv18330804 | Submitted genomic | NC_000009.11:g.(?_ 203862)_(5958840_? )dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 203,862 | 5,958,840 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18330804 | GRCh37: NC_000009.11:g.(?_203862)_(5958840_?)dup | copy number gain | unknown | not provided | Likely pathogenic | ClinVar | RCV002472665.1, VCV001807859.1 | 4 |