nsv3922926
- 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:2,161,723
- Description:GRCh38/hg38 9q34.3(chr9:135452016-137613738)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: 10638 SVs from 115 studies. See in: genome view
Overlapping variant regions from other studies: 10554 SVs from 115 studies. See in: genome view
Overlapping variant regions from other studies: 2708 SVs from 31 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3922926 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000009.12 | Chr9 | 135,452,016 | 137,613,738 |
| nsv3922926 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 138,343,862 | 140,508,190 |
| nsv3922926 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000009.10 | Chr9 | 137,483,683 | 139,628,011 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15120703 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000052937.5, VCV000059137.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15120703 | Submitted genomic | NC_000009.12:g.(?_ 135452016)_(137613 738_?)del | GRCh38 (hg38) | NC_000009.12 | Chr9 | 135,452,016 | 137,613,738 |
| nssv15120703 | Submitted genomic | NC_000009.11:g.(?_ 138343862)_(140508 190_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 138,343,862 | 140,508,190 |
| nssv15120703 | Submitted genomic | NC_000009.10:g.(?_ 137483683)_(139628 011_?)del | NCBI36 (hg18) | NC_000009.10 | Chr9 | 137,483,683 | 139,628,011 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15120703 | GRCh37: NC_000009.11:g.(?_138343862)_(140508190_?)del, GRCh38: NC_000009.12:g.(?_135452016)_(137613738_?)del, NCBI36: NC_000009.10:g.(?_137483683)_(139628011_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000052937.5, VCV000059137.1 | 1 |