nsv3898900
- 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:5,174,523
- Description:GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426) 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: 18076 SVs from 117 studies. See in: genome view
Overlapping variant regions from other studies: 18080 SVs from 117 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3898900 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 9,568,092 | 14,742,614 |
| nsv3898900 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 9,678,768 | 14,853,426 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15140428 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000446985.3, VCV000395688.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15140428 | Remapped | Good | NC_000019.10:g.(?_ 9568092)_(14742614 _?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 9,568,092 | 14,742,614 |
| nssv15140428 | Submitted genomic | NC_000019.9:g.(?_9 678768)_(14853426_ ?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 9,678,768 | 14,853,426 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15140428 | GRCh37: NC_000019.9:g.(?_9678768)_(14853426_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000446985.3, VCV000395688.3 |