nsv4456123
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:3,155,851
- Description:GRCh37/hg19 8q21.13-21.2(chr8:82196649-85352499)x1 AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 8338 SVs from 114 studies. See in: genome view
Overlapping variant regions from other studies: 8338 SVs from 114 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4456123 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 81,284,414 | 84,440,264 |
| nsv4456123 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 82,196,649 | 85,352,499 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15775717 | copy number loss | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV000847829.2, VCV000687123.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15775717 | Remapped | Perfect | NC_000008.11:g.(?_ 81284414)_(8444026 4_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 81,284,414 | 84,440,264 |
| nssv15775717 | Submitted genomic | NC_000008.10:g.(?_ 82196649)_(8535249 9_?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 82,196,649 | 85,352,499 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15775717 | GRCh37: NC_000008.10:g.(?_82196649)_(85352499_?)del | copy number loss | unknown | not provided | Uncertain significance | ClinVar | RCV000847829.2, VCV000687123.2 | 1 |