nsv6633870
- 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:154,693
- 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: 540 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 542 SVs from 60 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6633870 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 38,631,591 | 38,786,283 |
| nsv6633870 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 38,490,844 | 38,645,536 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18294287 | duplication | OSC4275 | SNP array | Probe signal intensity | 8 |
| nssv18323409 | duplication | OSC1480 | SNP array | Probe signal intensity | nssv18323410, nssv18323408, nssv18322857 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18294287 | Remapped | Perfect | NC_000023.11:g.(?_ 38631591)_(3878628 3_?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 38,631,591 | 38,786,283 |
| nssv18323409 | Remapped | Perfect | NC_000023.11:g.(?_ 38631591)_(3878628 3_?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 38,631,591 | 38,786,283 |
| nssv18294287 | Submitted genomic | NC_000023.10:g.(?_ 38490844)_(3864553 6_?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 38,490,844 | 38,645,536 | ||
| nssv18323409 | Submitted genomic | NC_000023.10:g.(?_ 38490844)_(3864553 6_?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 38,490,844 | 38,645,536 |