nsv6622492
- 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:50,126
- 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: 460 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 460 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6622492 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 20,875,005 | 20,925,130 |
| nsv6622492 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 21,343,164 | 21,393,289 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18292689 | deletion | OSC3991 | SNP array | Probe signal intensity | 5 |
| nssv18323988 | duplication | OSC1634 | SNP array | Probe signal intensity | nssv18323987, nssv18324552, nssv18324551 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18292689 | Remapped | Perfect | NC_000014.9:g.(?_2 0875005)_(20925130 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 20,875,005 | 20,925,130 |
| nssv18323988 | Remapped | Perfect | NC_000014.9:g.(?_2 0875005)_(20925130 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 20,875,005 | 20,925,130 |
| nssv18292689 | Submitted genomic | NC_000014.8:g.(?_2 1343164)_(21393289 _?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 21,343,164 | 21,393,289 | ||
| nssv18323988 | Submitted genomic | NC_000014.8:g.(?_2 1343164)_(21393289 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 21,343,164 | 21,393,289 |