nsv3915468
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:2,531,624
- Description:GRCh38/hg38 9q33.2-33.3(chr9:120938041-123469664)x1 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: 5819 SVs from 102 studies. See in: genome view
Overlapping variant regions from other studies: 5820 SVs from 102 studies. See in: genome view
Overlapping variant regions from other studies: 1464 SVs from 25 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3915468 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000009.12 | Chr9 | 120,938,041 | 123,469,664 |
| nsv3915468 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 123,700,319 | 126,231,943 |
| nsv3915468 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000009.10 | Chr9 | 122,740,140 | 125,271,764 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15134339 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000052922.5, VCV000059124.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15134339 | Submitted genomic | NC_000009.12:g.(?_ 120938041)_(123469 664_?)del | GRCh38 (hg38) | NC_000009.12 | Chr9 | 120,938,041 | 123,469,664 |
| nssv15134339 | Submitted genomic | NC_000009.11:g.(?_ 123700319)_(126231 943_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 123,700,319 | 126,231,943 |
| nssv15134339 | Submitted genomic | NC_000009.10:g.(?_ 122740140)_(125271 764_?)del | NCBI36 (hg18) | NC_000009.10 | Chr9 | 122,740,140 | 125,271,764 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15134339 | GRCh37: NC_000009.11:g.(?_123700319)_(126231943_?)del, GRCh38: NC_000009.12:g.(?_120938041)_(123469664_?)del, NCBI36: NC_000009.10:g.(?_122740140)_(125271764_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000052922.5, VCV000059124.1 | 1 |