nsv3896400
- 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:894,682
- Description:GRCh37/hg19 10q21.2-21.3(chr10:63888935-64783617) 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: 2218 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 2218 SVs from 81 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3896400 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 62,129,176 | 63,023,857 |
| nsv3896400 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 63,888,935 | 64,783,617 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17969410 | copy number gain | Multiple | Multiple | not specified | Uncertain significance | ClinVar | RCV002052874.3, VCV001527588.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17969410 | Remapped | Perfect | NC_000010.11:g.(?_ 62129176)_(6302385 7_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 62,129,176 | 63,023,857 |
| nssv17969410 | Submitted genomic | NC_000010.10:g.(?_ 63888935)_(6478361 7_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 63,888,935 | 64,783,617 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17969410 | GRCh37: NC_000010.10:g.(?_63888935)_(64783617_?)dup | copy number gain | germline | not specified | Uncertain significance | ClinVar | RCV002052874.3, VCV001527588.3 |