nsv6627473
- 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:12,966
- 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: 145 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 293 SVs from 58 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6627473 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_3 | First Pass | NT_187682.1 | Chr22|NT_1 87682.1 | 50,034 | 62,999 |
| nsv6627473 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 42,523,695 | 42,536,660 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18302796 | deletion | OSC5991 | SNP array | Probe signal intensity | 11 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18302796 | Remapped | Perfect | NT_187682.1:g.(?_5 0034)_(62999_?)del | GRCh38.p12 | First Pass | NT_187682.1 | Chr22|NT_1 87682.1 | 50,034 | 62,999 |
| nssv18302796 | Submitted genomic | NC_000022.10:g.(?_ 42523695)_(4253666 0_?)del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 42,523,695 | 42,536,660 |