nsv3893926
- 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:411,423
- Description:GRCh37/hg19 19q13.32(chr19:46192402-46603824)x3 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: 1387 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 1387 SVs from 73 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3893926 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 45,689,144 | 46,100,566 |
| nsv3893926 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 46,192,402 | 46,603,824 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15156240 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV000684080.1, VCV000564591.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15156240 | Remapped | Perfect | NC_000019.10:g.(?_ 45689144)_(4610056 6_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 45,689,144 | 46,100,566 |
| nssv15156240 | Submitted genomic | NC_000019.9:g.(?_4 6192402)_(46603824 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 46,192,402 | 46,603,824 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15156240 | GRCh37: NC_000019.9:g.(?_46192402)_(46603824_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV000684080.1, VCV000564591.1 | 3 |