nsv3914682
- 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:4,161,305
- Description:
GRCh38/hg38 8p23.1(chr8:8222339-12383643)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: 14989 SVs from 129 studies. See in: genome view
Overlapping variant regions from other studies: 14989 SVs from 129 studies. See in: genome view
Overlapping variant regions from other studies: 4602 SVs from 36 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3914682 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000008.11 | Chr8 | 8,222,339 | 12,383,643 |
| nsv3914682 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 8,079,861 | 12,241,152 |
| nsv3914682 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 8,117,271 | 12,285,523 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161029 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000050658.5, VCV000057060.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15161029 | Submitted genomic | NC_000008.11:g.(?_ 8222339)_(12383643 _?)del | GRCh38 (hg38) | NC_000008.11 | Chr8 | 8,222,339 | 12,383,643 |
| nssv15161029 | Submitted genomic | NC_000008.10:g.(?_ 8079861)_(12241152 _?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 8,079,861 | 12,241,152 |
| nssv15161029 | Submitted genomic | NC_000008.9:g.(?_8 117271)_(12285523_ ?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 8,117,271 | 12,285,523 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15161029 | GRCh37: NC_000008.10:g.(?_8079861)_(12241152_?)del, GRCh38: NC_000008.11:g.(?_8222339)_(12383643_?)del, NCBI36: NC_000008.9:g.(?_8117271)_(12285523_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000050658.5, VCV000057060.1 | 1 |