nsv3914228
- 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:17,747,384
- Description:GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)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: 52865 SVs from 135 studies. See in: genome view
Overlapping variant regions from other studies: 52840 SVs from 135 studies. See in: genome view
Overlapping variant regions from other studies: 14455 SVs from 39 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3914228 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 17,176,767 | 34,924,150 |
| nsv3914228 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 17,287,576 | 35,415,054 |
| nsv3914228 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000019.8 | Chr19 | 17,148,576 | 40,106,894 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146318 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000050635.7, VCV000057042.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146318 | Submitted genomic | NC_000019.10:g.(?_ 17176767)_(3492415 0_?)dup | GRCh38 (hg38) | NC_000019.10 | Chr19 | 17,176,767 | 34,924,150 |
| nssv15146318 | Submitted genomic | NC_000019.9:g.(?_1 7287576)_(35415054 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 17,287,576 | 35,415,054 |
| nssv15146318 | Submitted genomic | NC_000019.8:g.(?_1 7148576)_(40106894 _?)dup | NCBI36 (hg18) | NC_000019.8 | Chr19 | 17,148,576 | 40,106,894 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146318 | GRCh37: NC_000019.9:g.(?_17287576)_(35415054_?)dup, GRCh38: NC_000019.10:g.(?_17176767)_(34924150_?)dup, NCBI36: NC_000019.8:g.(?_17148576)_(40106894_?)dup | copy number gain | de novo | See cases | Pathogenic | ClinVar | RCV000050635.7, VCV000057042.1 | 3 |