nsv6627456
- 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:316,081
- 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: 981 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 982 SVs from 67 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6627456 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 33,908,484 | 34,224,564 |
| nsv6627456 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 34,304,472 | 34,620,553 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18323408 | duplication | OSC1480 | SNP array | Probe signal intensity | nssv18323409, nssv18323410, nssv18322857 |
| nssv18324519 | duplication | OSC1611 | SNP array | Probe signal intensity | 7 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18323408 | Remapped | Perfect | NC_000022.11:g.(?_ 33908484)_(3422456 4_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 33,908,484 | 34,224,564 |
| nssv18324519 | Remapped | Perfect | NC_000022.11:g.(?_ 33908484)_(3422456 4_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 33,908,484 | 34,224,564 |
| nssv18323408 | Submitted genomic | NC_000022.10:g.(?_ 34304472)_(3462055 3_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 34,304,472 | 34,620,553 | ||
| nssv18324519 | Submitted genomic | NC_000022.10:g.(?_ 34304472)_(3462055 3_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 34,304,472 | 34,620,553 |