nsv7093620
- Organism: Homo sapiens
- Study:nstd228 (Fan et al. 2022)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Yes
- Clinical Assertions: No
- Region Size:5,235,646
- Description:Confirmed by karyotype studies to be part of an unbalanced translocation
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: 22317 SVs from 121 studies. See in: genome view
Overlapping variant regions from other studies: 22258 SVs from 121 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 | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv7093620 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 54,086 | 5,289,731 | 5,289,731 |
| nsv7093620 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 100,026 | 5,313,662 | 5,331,694 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|---|
| nssv18786565 | copy number gain | 1 | SNP array | SNP genotyping analysis | 3 | Heterozygous | nssv18786564 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nssv18786565 | Remapped | Good | NC_000010.11:g.(?_ 54086)_(5289731_52 89731)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 54,086 | 5,289,731 | 5,289,731 |
| nssv18786565 | Submitted genomic | NC_000010.10:g.(?_ 100026)_(5313662_5 331694)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 100,026 | 5,313,662 | 5,331,694 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| nssv18786565 | 2 | 1 | Karyotyping | Manual observation | Pass |