nsv3897949
- 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:1,772,588
- Description:GRCh37/hg19 9q33.3-34.11(chr9:129079208-130851795) AND not specified
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 4819 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 4819 SVs from 96 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3897949 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 126,316,929 | 128,089,516 |
| nsv3897949 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 129,079,208 | 130,851,795 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17969382 | copy number loss | Multiple | Multiple | not specified | Pathogenic | ClinVar | RCV002052846.3, VCV001527560.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17969382 | Remapped | Perfect | NC_000009.12:g.(?_ 126316929)_(128089 516_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 126,316,929 | 128,089,516 |
| nssv17969382 | Submitted genomic | NC_000009.11:g.(?_ 129079208)_(130851 795_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 129,079,208 | 130,851,795 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17969382 | GRCh37: NC_000009.11:g.(?_129079208)_(130851795_?)del | copy number loss | germline | not specified | Pathogenic | ClinVar | RCV002052846.3, VCV001527560.3 |