nsv3924466
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:2,629,859
- Description:GRCh38/hg38 19p13.2-13.12(chr19:11525163-14155021)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: 9056 SVs from 109 studies. See in: genome view
Overlapping variant regions from other studies: 9056 SVs from 109 studies. See in: genome view
Overlapping variant regions from other studies: 1827 SVs from 33 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3924466 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 11,525,163 | 14,155,021 |
| nsv3924466 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 11,635,978 | 14,265,833 |
| nsv3924466 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000019.8 | Chr19 | 11,496,978 | 14,126,833 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15136271 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000136909.5, VCV000147761.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15136271 | Submitted genomic | NC_000019.10:g.(?_ 11525163)_(1415502 1_?)del | GRCh38 (hg38) | NC_000019.10 | Chr19 | 11,525,163 | 14,155,021 |
| nssv15136271 | Submitted genomic | NC_000019.9:g.(?_1 1635978)_(14265833 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 11,635,978 | 14,265,833 |
| nssv15136271 | Submitted genomic | NC_000019.8:g.(?_1 1496978)_(14126833 _?)del | NCBI36 (hg18) | NC_000019.8 | Chr19 | 11,496,978 | 14,126,833 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15136271 | GRCh37: NC_000019.9:g.(?_11635978)_(14265833_?)del, GRCh38: NC_000019.10:g.(?_11525163)_(14155021_?)del, NCBI36: NC_000019.8:g.(?_11496978)_(14126833_?)del | copy number loss | de novo | See cases | Pathogenic | ClinVar | RCV000136909.5, VCV000147761.2 | 1 |