nsv3920633
- 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:4,992,764
- Description:GRCh38/hg38 15q23-24.1(chr15:68830574-73823337)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: 12004 SVs from 118 studies. See in: genome view
Overlapping variant regions from other studies: 12006 SVs from 118 studies. See in: genome view
Overlapping variant regions from other studies: 3240 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 |
|---|---|---|---|---|---|---|---|
| nsv3920633 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000015.10 | Chr15 | 68,830,574 | 73,823,337 |
| nsv3920633 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 69,122,913 | 74,115,678 |
| nsv3920633 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000015.8 | Chr15 | 66,909,967 | 71,902,731 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15132571 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000050780.5, VCV000057140.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15132571 | Submitted genomic | NC_000015.10:g.(?_ 68830574)_(7382333 7_?)del | GRCh38 (hg38) | NC_000015.10 | Chr15 | 68,830,574 | 73,823,337 |
| nssv15132571 | Submitted genomic | NC_000015.9:g.(?_6 9122913)_(74115678 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 69,122,913 | 74,115,678 |
| nssv15132571 | Submitted genomic | NC_000015.8:g.(?_6 6909967)_(71902731 _?)del | NCBI36 (hg18) | NC_000015.8 | Chr15 | 66,909,967 | 71,902,731 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15132571 | GRCh37: NC_000015.9:g.(?_69122913)_(74115678_?)del, GRCh38: NC_000015.10:g.(?_68830574)_(73823337_?)del, NCBI36: NC_000015.8:g.(?_66909967)_(71902731_?)del | copy number loss | de novo | See cases | Pathogenic | ClinVar | RCV000050780.5, VCV000057140.1 | 1 |