nsv3914351
- 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:7,676,635
- Description:GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)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: 34487 SVs from 128 studies. See in: genome view
Overlapping variant regions from other studies: 34443 SVs from 128 studies. See in: genome view
Overlapping variant regions from other studies: 7524 SVs from 36 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3914351 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 1,972,245 | 9,648,879 |
| nsv3914351 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 1,972,244 | 9,759,555 |
| nsv3914351 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000019.8 | Chr19 | 1,923,244 | 9,620,555 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15147143 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000052879.7, VCV000059082.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15147143 | Submitted genomic | NC_000019.10:g.(?_ 1972245)_(9648879_ ?)dup | GRCh38 (hg38) | NC_000019.10 | Chr19 | 1,972,245 | 9,648,879 |
| nssv15147143 | Submitted genomic | NC_000019.9:g.(?_1 972244)_(9759555_? )dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 1,972,244 | 9,759,555 |
| nssv15147143 | Submitted genomic | NC_000019.8:g.(?_1 923244)_(9620555_? )dup | NCBI36 (hg18) | NC_000019.8 | Chr19 | 1,923,244 | 9,620,555 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15147143 | GRCh37: NC_000019.9:g.(?_1972244)_(9759555_?)dup, GRCh38: NC_000019.10:g.(?_1972245)_(9648879_?)dup, NCBI36: NC_000019.8:g.(?_1923244)_(9620555_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000052879.7, VCV000059082.1 | 3 |