nsv6314081
- 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:1,059,488
- Description:GRCh37/hg19 19q13.31-13.32(chr19:45074342-46133841) 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: 3870 SVs from 97 studies. See in: genome view
Overlapping variant regions from other studies: 3887 SVs from 97 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6314081 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 44,571,096 | 45,630,583 |
| nsv6314081 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 45,074,342 | 46,133,841 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17969222 | copy number gain | Multiple | Multiple | not specified | Uncertain significance | ClinVar | RCV002052686.3, VCV001526667.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17969222 | Remapped | Good | NC_000019.10:g.(?_ 44571096)_(4563058 3_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 44,571,096 | 45,630,583 |
| nssv17969222 | Submitted genomic | NC_000019.9:g.(?_4 5074342)_(46133841 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 45,074,342 | 46,133,841 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17969222 | GRCh37: NC_000019.9:g.(?_45074342)_(46133841_?)dup | copy number gain | germline | not specified | Uncertain significance | ClinVar | RCV002052686.3, VCV001526667.3 |