nsv6632826
- 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:367,577
- 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: 1970 SVs from 112 studies. See in: genome view
Overlapping variant regions from other studies: 1082 SVs from 86 studies. See in: genome view
Overlapping variant regions from other studies: 1971 SVs from 112 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6632826 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 6,778,436 | 7,146,012 |
| nsv6632826 | Remapped | Good | GRCh38.p12 | PATCHES | Second Pass | NW_018654717.1 | Chr8|NW_01 8654717.1 | 173,708 | 541,171 |
| nsv6632826 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 6,635,957 | 7,003,534 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18302574 | duplication | OSC5834 | SNP array | Probe signal intensity | 12 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18302574 | Remapped | Good | NW_018654717.1:g.( ?_173708)_(541171_ ?)dup | GRCh38.p12 | Second Pass | NW_018654717.1 | Chr8|NW_01 8654717.1 | 173,708 | 541,171 |
| nssv18302574 | Remapped | Perfect | NC_000008.11:g.(?_ 6778436)_(7146012_ ?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 6,778,436 | 7,146,012 |
| nssv18302574 | Submitted genomic | NC_000008.10:g.(?_ 6635957)_(7003534_ ?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 6,635,957 | 7,003,534 |