nsv6623623
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:345,004
- Publication(s):Zarrei et al. 2023
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: 881 SVs from 84 studies. See in: genome view
Overlapping variant regions from other studies: 781 SVs from 78 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6623623 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 35,532,147 | 35,877,150 |
| nsv6623623 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 34,766,518 | 35,111,521 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18281964 | duplication | OSC2052 | SNP array | Probe signal intensity | nssv18282582, nssv18282583 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18281964 | Remapped | Perfect | NC_000016.10:g.(?_ 35532147)_(3587715 0_?)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 35,532,147 | 35,877,150 |
| nssv18281964 | Submitted genomic | NC_000016.9:g.(?_3 4766518)_(35111521 _?)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 34,766,518 | 35,111,521 |