nsv6314185
- 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:10,150,461
- Description:GRCh37/hg19 10q21.3-22.3(chr10:68735254-78885714) AND not specified
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 25699 SVs from 122 studies. See in: genome view
Overlapping variant regions from other studies: 25701 SVs from 122 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6314185 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 66,975,496 | 77,125,956 |
| nsv6314185 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 68,735,254 | 78,885,714 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17969411 | copy number loss | Multiple | Multiple | not specified | Pathogenic | ClinVar | RCV002052875.3, VCV001527589.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17969411 | Remapped | Perfect | NC_000010.11:g.(?_ 66975496)_(7712595 6_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 66,975,496 | 77,125,956 |
| nssv17969411 | Submitted genomic | NC_000010.10:g.(?_ 68735254)_(7888571 4_?)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 68,735,254 | 78,885,714 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17969411 | GRCh37: NC_000010.10:g.(?_68735254)_(78885714_?)del | copy number loss | germline | not specified | Pathogenic | ClinVar | RCV002052875.3, VCV001527589.3 |