nsv6626907
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:751,581
- 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: 3396 SVs from 108 studies. See in: genome view
Overlapping variant regions from other studies: 3440 SVs from 108 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6626907 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 20,354,351 | 21,105,931 |
| nsv6626907 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 20,708,641 | 21,460,220 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18324284 | duplication | OSC1647 | SNP array | Probe signal intensity | nssv18323632, nssv18323633 |
| nssv18325501 | duplication | OSC1842 | SNP array | Probe signal intensity | 6 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18324284 | Remapped | Perfect | NC_000022.11:g.(?_ 20354351)_(2110593 1_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 20,354,351 | 21,105,931 |
| nssv18325501 | Remapped | Perfect | NC_000022.11:g.(?_ 20354351)_(2110593 1_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 20,354,351 | 21,105,931 |
| nssv18324284 | Submitted genomic | NC_000022.10:g.(?_ 20708641)_(2146022 0_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 20,708,641 | 21,460,220 | ||
| nssv18325501 | Submitted genomic | NC_000022.10:g.(?_ 20708641)_(2146022 0_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 20,708,641 | 21,460,220 |