nsv3900967
- 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:138,068,534
- Description:GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 326817 SVs from 149 studies. See in: genome view
Overlapping variant regions from other studies: 326836 SVs from 149 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3900967 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 163,131 | 138,231,664 |
| nsv3900967 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 163,131 | 141,122,114 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146972 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000240081.2, VCV000253402.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15146972 | Remapped | Good | NC_000009.12:g.(?_ 163131)_(138231664 _?)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 163,131 | 138,231,664 |
| nssv15146972 | Submitted genomic | NC_000009.11:g.(?_ 163131)_(141122114 _?)dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 163,131 | 141,122,114 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146972 | GRCh37: NC_000009.11:g.(?_163131)_(141122114_?)dup | copy number gain | unknown | See cases | Pathogenic | ClinVar | RCV000240081.2, VCV000253402.2 | 3 |