nsv3918029
- 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:1,616,352
- Description:
GRCh38/hg38 19p13.3(chr19:275925-1892276)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: 12509 SVs from 110 studies. See in: genome view
Overlapping variant regions from other studies: 12509 SVs from 110 studies. See in: genome view
Overlapping variant regions from other studies: 3481 SVs from 29 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3918029 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 275,925 | 1,892,276 |
| nsv3918029 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 275,925 | 1,892,275 |
| nsv3918029 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000019.8 | Chr19 | 226,925 | 1,843,275 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15138543 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000141358.7, VCV000152851.3 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15138543 | Submitted genomic | NC_000019.10:g.(?_ 275925)_(1892276_? )dup | GRCh38 (hg38) | NC_000019.10 | Chr19 | 275,925 | 1,892,276 |
| nssv15138543 | Submitted genomic | NC_000019.9:g.(?_2 75925)_(1892275_?) dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 275,925 | 1,892,275 |
| nssv15138543 | Submitted genomic | NC_000019.8:g.(?_2 26925)_(1843275_?) dup | NCBI36 (hg18) | NC_000019.8 | Chr19 | 226,925 | 1,843,275 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15138543 | GRCh37: NC_000019.9:g.(?_275925)_(1892275_?)dup, GRCh38: NC_000019.10:g.(?_275925)_(1892276_?)dup, NCBI36: NC_000019.8:g.(?_226925)_(1843275_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000141358.7, VCV000152851.3 | 3 |