nsv4377454
- 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:265,245
- 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: 867 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 867 SVs from 67 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4377454 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 118,485,054 | 118,750,298 |
| nsv4377454 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 118,355,769 | 118,621,008 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15650086 | copy number gain | 2-1294-004 | SNP array | Genotyping | 20 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15650086 | Remapped | Good | NC_000011.10:g.(?_ 118485054)_(118750 298_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 118,485,054 | 118,750,298 |
| nssv15650086 | Submitted genomic | NC_000011.9:g.(?_1 18355769)_(1186210 08_?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 118,355,769 | 118,621,008 |