nsv6624511
- 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:813,482
- 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: 2721 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 2721 SVs from 85 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6624511 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 73,843,612 | 74,657,093 |
| nsv6624511 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 71,839,751 | 72,653,232 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis |
|---|---|---|---|---|
| nssv18285500 | duplication | OSC2810 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv18285500 | Remapped | Perfect | NC_000017.11:g.(?_ 73843612)_(7465709 3_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 73,843,612 | 74,657,093 |
| nssv18285500 | Submitted genomic | NC_000017.10:g.(?_ 71839751)_(7265323 2_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 71,839,751 | 72,653,232 |