nsv6623954
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:36,562
- 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: 496 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 496 SVs from 71 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6623954 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 75,505,538 | 75,542,099 |
| nsv6623954 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 75,539,436 | 75,575,997 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18290351 | duplication | OSC0374 | SNP array | Probe signal intensity | 6 |
| nssv18293200 | duplication | OSC0040 | SNP array | Probe signal intensity | nssv18293232, nssv18293975, nssv18293928 |
| nssv18296641 | duplication | OSC4823 | SNP array | Probe signal intensity | 10 |
| nssv18321499 | duplication | OSC1178 | SNP array | Probe signal intensity | 7 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18290351 | Remapped | Perfect | NC_000016.10:g.(?_ 75505538)_(7554209 9_?)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 75,505,538 | 75,542,099 |
| nssv18293200 | Remapped | Perfect | NC_000016.10:g.(?_ 75505538)_(7554209 9_?)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 75,505,538 | 75,542,099 |
| nssv18296641 | Remapped | Perfect | NC_000016.10:g.(?_ 75505538)_(7554209 9_?)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 75,505,538 | 75,542,099 |
| nssv18321499 | Remapped | Perfect | NC_000016.10:g.(?_ 75505538)_(7554209 9_?)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 75,505,538 | 75,542,099 |
| nssv18290351 | Submitted genomic | NC_000016.9:g.(?_7 5539436)_(75575997 _?)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 75,539,436 | 75,575,997 | ||
| nssv18293200 | Submitted genomic | NC_000016.9:g.(?_7 5539436)_(75575997 _?)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 75,539,436 | 75,575,997 | ||
| nssv18296641 | Submitted genomic | NC_000016.9:g.(?_7 5539436)_(75575997 _?)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 75,539,436 | 75,575,997 | ||
| nssv18321499 | Submitted genomic | NC_000016.9:g.(?_7 5539436)_(75575997 _?)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 75,539,436 | 75,575,997 |