nsv6626917
- 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:117,680
- 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: 1373 SVs from 86 studies. See in: genome view
Overlapping variant regions from other studies: 811 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 1625 SVs from 100 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6626917 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 23,838,353 | 23,956,032 |
| nsv6626917 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187633.1 | Chr22|NT_1 87633.1 | 74,715 | 192,394 |
| nsv6626917 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 24,180,540 | 24,313,804 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18283695 | duplication | OSC2412 | SNP array | Probe signal intensity | 9 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18283695 | Remapped | Pass | NT_187633.1:g.(?_7 4715)_(192394_?)du p | GRCh38.p12 | Second Pass | NT_187633.1 | Chr22|NT_1 87633.1 | 74,715 | 192,394 |
| nssv18283695 | Remapped | Pass | NC_000022.11:g.(?_ 23838353)_(2395603 2_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 23,838,353 | 23,956,032 |
| nssv18283695 | Submitted genomic | NC_000022.10:g.(?_ 24180540)_(2431380 4_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 24,180,540 | 24,313,804 |