nsv6626624
- 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:38,177,623
- 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: 114145 SVs from 143 studies. See in: genome view
Overlapping variant regions from other studies: 114052 SVs from 143 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6626624 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 8,522,361 | 46,699,983 |
| nsv6626624 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 1 | 48,129,895 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis |
|---|---|---|---|---|
| nssv18293323 | duplication | OSC4251 | SNP array | Probe signal intensity |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18293323 | Remapped | Pass | NC_000021.9:g.(?_8 522361)_(46699983_ ?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 8,522,361 | 46,699,983 |
| nssv18293323 | Submitted genomic | NC_000021.8:g.(?_1 )_(48129895_?)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 1 | 48,129,895 |