nsv3923302
- 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:6,300,374
- Description:GRCh38/hg38 8p21.2-12(chr8:24910364-31210737)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: 18194 SVs from 115 studies. See in: genome view
Overlapping variant regions from other studies: 18202 SVs from 115 studies. See in: genome view
Overlapping variant regions from other studies: 4761 SVs from 33 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3923302 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000008.11 | Chr8 | 24,910,364 | 31,210,737 |
| nsv3923302 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 24,767,877 | 31,068,253 |
| nsv3923302 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 24,823,781 | 31,187,795 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15119973 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000054237.6, VCV000060359.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15119973 | Submitted genomic | NC_000008.11:g.(?_ 24910364)_(3121073 7_?)del | GRCh38 (hg38) | NC_000008.11 | Chr8 | 24,910,364 | 31,210,737 |
| nssv15119973 | Submitted genomic | NC_000008.10:g.(?_ 24767877)_(3106825 3_?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 24,767,877 | 31,068,253 |
| nssv15119973 | Submitted genomic | NC_000008.9:g.(?_2 4823781)_(31187795 _?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 24,823,781 | 31,187,795 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15119973 | GRCh37: NC_000008.10:g.(?_24767877)_(31068253_?)del, GRCh38: NC_000008.11:g.(?_24910364)_(31210737_?)del, NCBI36: NC_000008.9:g.(?_24823781)_(31187795_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000054237.6, VCV000060359.1 | 1 |