nsv3922156
- 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:766,341
- Description:
GRCh38/hg38 19p13.3(chr19:591812-1358152)x3 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: 5564 SVs from 99 studies. See in: genome view
Overlapping variant regions from other studies: 5564 SVs from 99 studies. See in: genome view
Overlapping variant regions from other studies: 1543 SVs from 26 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3922156 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 591,812 | 1,358,152 |
| nsv3922156 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 591,812 | 1,358,151 |
| nsv3922156 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000019.8 | Chr19 | 542,812 | 1,309,151 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15119865 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000052877.6, VCV000059080.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15119865 | Submitted genomic | NC_000019.10:g.(?_ 591812)_(1358152_? )dup | GRCh38 (hg38) | NC_000019.10 | Chr19 | 591,812 | 1,358,152 |
| nssv15119865 | Submitted genomic | NC_000019.9:g.(?_5 91812)_(1358151_?) dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 591,812 | 1,358,151 |
| nssv15119865 | Submitted genomic | NC_000019.8:g.(?_5 42812)_(1309151_?) dup | NCBI36 (hg18) | NC_000019.8 | Chr19 | 542,812 | 1,309,151 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15119865 | GRCh37: NC_000019.9:g.(?_591812)_(1358151_?)dup, GRCh38: NC_000019.10:g.(?_591812)_(1358152_?)dup, NCBI36: NC_000019.8:g.(?_542812)_(1309151_?)dup | copy number gain | de novo | See cases | Pathogenic | ClinVar | RCV000052877.6, VCV000059080.1 | 3 |