nsv4376719
- 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:212,137
- 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: 1079 SVs from 89 studies. See in: genome view
Overlapping variant regions from other studies: 984 SVs from 86 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4376719 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 21,425,056 | 21,637,192 |
| nsv4376719 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 21,328,368 | 21,540,437 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15621849 | copy number loss | 1-1040-003 | SNP array | Genotyping | 20 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15621849 | Remapped | Good | NC_000017.11:g.(?_ 21425056)_(2163719 2_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 21,425,056 | 21,637,192 |
| nssv15621849 | Submitted genomic | NC_000017.10:g.(?_ 21328368)_(2154043 7_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 21,328,368 | 21,540,437 |