nsv4383350
- 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:228,153
- 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: 1535 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 1673 SVs from 82 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4383350 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 50,385,820 | 50,613,972 |
| nsv4383350 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 50,344,991 | 50,573,143 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15613585 | copy number gain | 1-0691-003 | SNP array | Genotyping | 26 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15613585 | Remapped | Perfect | NC_000011.10:g.(?_ 50385820)_(5061397 2_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 50,385,820 | 50,613,972 |
| nssv15613585 | Submitted genomic | NC_000011.9:g.(?_5 0344991)_(50573143 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 50,344,991 | 50,573,143 |