nsv6633842
- 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:49,381
- 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: 341 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 337 SVs from 30 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6633842 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 144,214,673 | 144,264,053 |
| nsv6633842 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 143,297,779 | 143,347,159 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18303379 | deletion | OSC5987 | SNP array | Probe signal intensity | nssv18303644, nssv18302790 |
| nssv18303979 | deletion | OSC6178 | SNP array | Probe signal intensity | 10 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18303379 | Remapped | Perfect | NC_000023.11:g.(?_ 144214673)_(144264 053_?)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 144,214,673 | 144,264,053 |
| nssv18303979 | Remapped | Perfect | NC_000023.11:g.(?_ 144214673)_(144264 053_?)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 144,214,673 | 144,264,053 |
| nssv18303379 | Submitted genomic | NC_000023.10:g.(?_ 143297779)_(143347 159_?)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 143,297,779 | 143,347,159 | ||
| nssv18303979 | Submitted genomic | NC_000023.10:g.(?_ 143297779)_(143347 159_?)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 143,297,779 | 143,347,159 |