nsv6634214
- 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:531,776
- 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: 1140 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 1132 SVs from 76 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6634214 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 141,127,483 | 141,659,258 |
| nsv6634214 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 140,221,672 | 140,747,402 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18290114 | duplication | OSC3491 | SNP array | Probe signal intensity | 6 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18290114 | Remapped | Good | NC_000023.11:g.(?_ 141127483)_(141659 258_?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 141,127,483 | 141,659,258 |
| nssv18290114 | Submitted genomic | NC_000023.10:g.(?_ 140221672)_(140747 402_?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 140,221,672 | 140,747,402 |