nsv6626614
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:5
- Validation:Not tested
- Clinical Assertions: No
- Region Size:65,030
- 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: 691 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 664 SVs from 74 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6626614 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 10,540,506 | 10,605,535 |
| nsv6626614 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 10,906,922 | 10,971,951 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18281924 | deletion | OSC2271 | SNP array | Probe signal intensity | nssv18281922, nssv18281923, nssv18281925 |
| nssv18282091 | duplication | OSC2152 | SNP array | Probe signal intensity | nssv18282412 |
| nssv18289037 | deletion | OSC3333 | SNP array | Probe signal intensity | 12 |
| nssv18295442 | deletion | OSC4614 | SNP array | Probe signal intensity | nssv18295984 |
| nssv18324110 | duplication | OSC1719 | SNP array | Probe signal intensity | nssv18324392, nssv18324393 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18281924 | Remapped | Perfect | NC_000021.9:g.(?_1 0540506)_(10605535 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,540,506 | 10,605,535 |
| nssv18282091 | Remapped | Perfect | NC_000021.9:g.(?_1 0540506)_(10605535 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,540,506 | 10,605,535 |
| nssv18289037 | Remapped | Perfect | NC_000021.9:g.(?_1 0540506)_(10605535 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,540,506 | 10,605,535 |
| nssv18295442 | Remapped | Perfect | NC_000021.9:g.(?_1 0540506)_(10605535 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,540,506 | 10,605,535 |
| nssv18324110 | Remapped | Perfect | NC_000021.9:g.(?_1 0540506)_(10605535 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,540,506 | 10,605,535 |
| nssv18281924 | Submitted genomic | NC_000021.8:g.(?_1 0906922)_(10971951 _?)del | GRCh37 (hg19) | NC_000021.8 | Chr21 | 10,906,922 | 10,971,951 | ||
| nssv18282091 | Submitted genomic | NC_000021.8:g.(?_1 0906922)_(10971951 _?)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 10,906,922 | 10,971,951 | ||
| nssv18289037 | Submitted genomic | NC_000021.8:g.(?_1 0906922)_(10971951 _?)del | GRCh37 (hg19) | NC_000021.8 | Chr21 | 10,906,922 | 10,971,951 | ||
| nssv18295442 | Submitted genomic | NC_000021.8:g.(?_1 0906922)_(10971951 _?)del | GRCh37 (hg19) | NC_000021.8 | Chr21 | 10,906,922 | 10,971,951 | ||
| nssv18324110 | Submitted genomic | NC_000021.8:g.(?_1 0906922)_(10971951 _?)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 10,906,922 | 10,971,951 |