nsv4365318
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:133,845
- Publication(s):Zarrei et al. 2019
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 565 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 565 SVs from 69 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4365318 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 70,617,031 | 70,750,875 |
| nsv4365318 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 71,529,266 | 71,663,110 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15625688 | copy number gain | 1-0345-005 | SNP array | Genotyping | 31 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15625688 | Remapped | Perfect | NC_000008.11:g.(?_ 70617031)_(7075087 5_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 70,617,031 | 70,750,875 |
| nssv15625688 | Submitted genomic | NC_000008.10:g.(?_ 71529266)_(7166311 0_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 71,529,266 | 71,663,110 |