nsv6627184
- 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:2,016,106
- 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: 9782 SVs from 132 studies. See in: genome view
Overlapping variant regions from other studies: 9842 SVs from 132 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6627184 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 21,445,430 | 23,461,535 |
| nsv6627184 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 21,799,719 | 23,803,722 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18286934 | duplication | OSC3021 | SNP array | Probe signal intensity | 11 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18286934 | Remapped | Good | NC_000022.11:g.(?_ 21445430)_(2346153 5_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 21,445,430 | 23,461,535 |
| nssv18286934 | Submitted genomic | NC_000022.10:g.(?_ 21799719)_(2380372 2_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 21,799,719 | 23,803,722 |