nsv3900160
- 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:2,084,475
- Description:GRCh37/hg19 19q13.32-13.33(chr19:46404248-48488721)x1 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: 7639 SVs from 100 studies. See in: genome view
Overlapping variant regions from other studies: 7640 SVs from 100 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3900160 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 45,900,990 | 47,985,464 |
| nsv3900160 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 46,404,248 | 48,488,721 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15142859 | copy number loss | Multiple | Multiple | See cases | Likely pathogenic | ClinVar | RCV000511362.2, VCV000441540.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15142859 | Remapped | Perfect | NC_000019.10:g.(?_ 45900990)_(4798546 4_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 45,900,990 | 47,985,464 |
| nssv15142859 | Submitted genomic | NC_000019.9:g.(?_4 6404248)_(48488721 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 46,404,248 | 48,488,721 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15142859 | GRCh37: NC_000019.9:g.(?_46404248)_(48488721_?)del | copy number loss | not provided | See cases | Likely pathogenic | ClinVar | RCV000511362.2, VCV000441540.2 | 1 |