nsv4350827
- 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:1,489,176
- Description:GRCh37/hg19 19q13.32-13.33(chr19:47036361-48525536) 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: 5494 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 5495 SVs from 96 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4350827 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 46,533,104 | 48,022,279 |
| nsv4350827 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 47,036,361 | 48,525,536 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15605938 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000767770.1, VCV000625762.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15605938 | Remapped | Perfect | NC_000019.10:g.(?_ 46533104)_(4802227 9_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 46,533,104 | 48,022,279 |
| nssv15605938 | Submitted genomic | NC_000019.9:g.(?_4 7036361)_(48525536 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 47,036,361 | 48,525,536 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15605938 | GRCh37: NC_000019.9:g.(?_47036361)_(48525536_?)dup | copy number gain | de novo | not provided | Pathogenic | ClinVar | RCV000767770.1, VCV000625762.1 |