nsv3924445
- 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:179,000
- Description:GRCh38/hg38 8q13.3(chr8:70625656-70804655)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: 588 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 588 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 155 SVs from 14 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3924445 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000008.11 | Chr8 | 70,625,656 | 70,804,655 |
| nsv3924445 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 71,537,891 | 71,716,890 |
| nsv3924445 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 71,700,445 | 71,879,444 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15137226 | copy number loss | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000137676.5, VCV000148605.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15137226 | Submitted genomic | NC_000008.11:g.(?_ 70625656)_(7080465 5_?)del | GRCh38 (hg38) | NC_000008.11 | Chr8 | 70,625,656 | 70,804,655 |
| nssv15137226 | Submitted genomic | NC_000008.10:g.(?_ 71537891)_(7171689 0_?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 71,537,891 | 71,716,890 |
| nssv15137226 | Submitted genomic | NC_000008.9:g.(?_7 1700445)_(71879444 _?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 71,700,445 | 71,879,444 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15137226 | GRCh37: NC_000008.10:g.(?_71537891)_(71716890_?)del, GRCh38: NC_000008.11:g.(?_70625656)_(70804655_?)del, NCBI36: NC_000008.9:g.(?_71700445)_(71879444_?)del | copy number loss | not provided | See cases | Uncertain significance | ClinVar | RCV000137676.5, VCV000148605.2 | 1 |