nsv6290300
- 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:21,371,211
- Description:GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3 AND Specific learning disability
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 64362 SVs from 138 studies. See in: genome view
Overlapping variant regions from other studies: 64381 SVs from 139 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6290300 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 19,436,114 | 40,807,324 |
| nsv6290300 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 19,546,923 | 41,313,229 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17955801 | copy number gain | Multiple | Multiple | Specific learning disability; Specific learning disability | Pathogenic | ClinVar | RCV001801194.1, VCV001330177.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17955801 | Remapped | Good | NC_000019.10:g.(?_ 19436114)_(4080732 4_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 19,436,114 | 40,807,324 |
| nssv17955801 | Submitted genomic | NC_000019.9:g.(?_1 9546923)_(41313229 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 19,546,923 | 41,313,229 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17955801 | GRCh37: NC_000019.9:g.(?_19546923)_(41313229_?)dup | copy number gain | unknown | Specific learning disability; Specific learning disability | Pathogenic | ClinVar | RCV001801194.1, VCV001330177.1 | 3 |