nsv4729318
- 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:109,422
- Description:GRCh37/hg19 8q13.1(chr8:67810924-67920345)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: 302 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 302 SVs from 50 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4729318 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 66,898,689 | 67,008,110 |
| nsv4729318 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 67,810,924 | 67,920,345 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16254771 | copy number loss | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001258411.1, VCV000979235.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16254771 | Remapped | Perfect | NC_000008.11:g.(?_ 66898689)_(6700811 0_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 66,898,689 | 67,008,110 |
| nssv16254771 | Submitted genomic | NC_000008.10:g.(?_ 67810924)_(6792034 5_?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 67,810,924 | 67,920,345 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16254771 | GRCh37: NC_000008.10:g.(?_67810924)_(67920345_?)del | copy number loss | germline | not provided | Uncertain significance | ClinVar | RCV001258411.1, VCV000979235.1 | 1 |