nsv4349353
- 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:2,730,940
- Description:GRCh37/hg19 9q34.11-34.13(chr9:131670024-134514071) 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: 10337 SVs from 114 studies. See in: genome view
Overlapping variant regions from other studies: 10285 SVs from 114 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4349353 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 128,907,745 | 131,638,684 |
| nsv4349353 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 131,670,024 | 134,514,071 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15605776 | copy number loss | Multiple | Multiple | not provided | Likely pathogenic | ClinVar | RCV000767561.1, VCV000625553.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15605776 | Remapped | Good | NC_000009.12:g.(?_ 128907745)_(131638 684_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 128,907,745 | 131,638,684 |
| nssv15605776 | Submitted genomic | NC_000009.11:g.(?_ 131670024)_(134514 071_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 131,670,024 | 134,514,071 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15605776 | GRCh37: NC_000009.11:g.(?_131670024)_(134514071_?)del | copy number loss | germline | not provided | Likely pathogenic | ClinVar | RCV000767561.1, VCV000625553.1 |