nsv3903905
- 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:40,421
- Description:GRCh37/hg19 19q13.12(chr19:36166726-36207146)x3 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 252 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 252 SVs from 41 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3903905 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 35,675,824 | 35,716,244 |
| nsv3903905 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 36,166,726 | 36,207,146 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15139362 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000448162.3, VCV000395360.3 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15139362 | Remapped | Perfect | NC_000019.10:g.(?_ 35675824)_(3571624 4_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 35,675,824 | 35,716,244 |
| nssv15139362 | Submitted genomic | NC_000019.9:g.(?_3 6166726)_(36207146 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 36,166,726 | 36,207,146 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15139362 | GRCh37: NC_000019.9:g.(?_36166726)_(36207146_?)dup | copy number gain | not provided | See cases | Uncertain significance | ClinVar | RCV000448162.3, VCV000395360.3 | 3 |