nsv6624583
- 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:438,077
- 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: 1922 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 1922 SVs from 77 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6624583 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 2,881,841 | 3,319,917 |
| nsv6624583 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000018.9 | Chr18 | 2,881,839 | 3,319,915 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18296377 | duplication | OSC4656 | SNP array | Probe signal intensity | nssv18295721, nssv18295719, nssv18295720 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18296377 | Remapped | Perfect | NC_000018.10:g.(?_ 2881841)_(3319917_ ?)dup | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 2,881,841 | 3,319,917 |
| nssv18296377 | Submitted genomic | NC_000018.9:g.(?_2 881839)_(3319915_? )dup | GRCh37 (hg19) | NC_000018.9 | Chr18 | 2,881,839 | 3,319,915 |