nsv6624200
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1,348,602
- 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: 4169 SVs from 109 studies. See in: genome view
Overlapping variant regions from other studies: 4169 SVs from 109 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6624200 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 14,197,712 | 15,546,313 |
| nsv6624200 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 14,101,029 | 15,449,627 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18290881 | duplication | OSC3588 | SNP array | Probe signal intensity | nssv18291181, nssv18290304, nssv18291182 |
| nssv18324201 | duplication | OSC1590 | SNP array | Probe signal intensity | 5 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18290881 | Remapped | Perfect | NC_000017.11:g.(?_ 14197712)_(1554631 3_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 14,197,712 | 15,546,313 |
| nssv18324201 | Remapped | Perfect | NC_000017.11:g.(?_ 14197712)_(1554631 3_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 14,197,712 | 15,546,313 |
| nssv18290881 | Submitted genomic | NC_000017.10:g.(?_ 14101029)_(1544962 7_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 14,101,029 | 15,449,627 | ||
| nssv18324201 | Submitted genomic | NC_000017.10:g.(?_ 14101029)_(1544962 7_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 14,101,029 | 15,449,627 |