nsv6314071
- 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:375,131
- Description:GRCh37/hg19 10q24.1-24.2(chr10:99070594-99445724) 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: 1171 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 1171 SVs from 69 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6314071 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 97,310,837 | 97,685,967 |
| nsv6314071 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 99,070,594 | 99,445,724 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17969420 | copy number gain | Multiple | Multiple | not specified | Uncertain significance | ClinVar | RCV002052884.3, VCV001527598.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17969420 | Remapped | Perfect | NC_000010.11:g.(?_ 97310837)_(9768596 7_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 97,310,837 | 97,685,967 |
| nssv17969420 | Submitted genomic | NC_000010.10:g.(?_ 99070594)_(9944572 4_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 99,070,594 | 99,445,724 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17969420 | GRCh37: NC_000010.10:g.(?_99070594)_(99445724_?)dup | copy number gain | germline | not specified | Uncertain significance | ClinVar | RCV002052884.3, VCV001527598.3 |