nsv3895942
- 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:8,032,827
- Description:GRCh37/hg19 19p13.11-11(chr19:16526787-24631604)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: 32456 SVs from 132 studies. See in: genome view
Overlapping variant regions from other studies: 32442 SVs from 132 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3895942 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 16,415,976 | 24,448,802 |
| nsv3895942 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 16,526,787 | 24,631,604 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15174494 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000752593.2, VCV000615957.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15174494 | Remapped | Good | NC_000019.10:g.(?_ 16415976)_(2444880 2_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 16,415,976 | 24,448,802 |
| nssv15174494 | Submitted genomic | NC_000019.9:g.(?_1 6526787)_(24631604 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 16,526,787 | 24,631,604 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15174494 | GRCh37: NC_000019.9:g.(?_16526787)_(24631604_?)dup | copy number gain | unknown | not provided | Pathogenic | ClinVar | RCV000752593.2, VCV000615957.2 | 3 |