nsv4378563
- 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:259,495
- 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: 3073 SVs from 105 studies. See in: genome view
Overlapping variant regions from other studies: 3079 SVs from 105 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4378563 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 22,656,705 | 22,916,199 |
| nsv4378563 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 22,999,175 | 23,258,369 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15642017 | copy number loss | 15-1127-004 | SNP array | Genotyping | 32 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15642017 | Remapped | Good | NC_000022.11:g.(?_ 22656705)_(2291619 9_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 22,656,705 | 22,916,199 |
| nssv15642017 | Submitted genomic | NC_000022.10:g.(?_ 22999175)_(2325836 9_?)del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 22,999,175 | 23,258,369 |