nsv3903203
- 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:58,324,882
- Description:GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)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: 221348 SVs from 145 studies. See in: genome view
Overlapping variant regions from other studies: 219203 SVs from 146 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3903203 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 260,912 | 58,585,793 |
| nsv3903203 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 260,912 | 59,097,160 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15173861 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000752444.2, VCV000615808.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15173861 | Remapped | Good | NC_000019.10:g.(?_ 260912)_(58585793_ ?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 260,912 | 58,585,793 |
| nssv15173861 | Submitted genomic | NC_000019.9:g.(?_2 60912)_(59097160_? )dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 260,912 | 59,097,160 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15173861 | GRCh37: NC_000019.9:g.(?_260912)_(59097160_?)dup | copy number gain | unknown | not provided | Pathogenic | ClinVar | RCV000752444.2, VCV000615808.2 | 3 |