nsv6634477
- Organism: Homo sapiens
- Study:nstd226 (Mei et al. 2022)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:63,889
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: 206 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 208 SVs from 42 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6634477 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 147,895,526 | 147,959,414 |
| nsv6634477 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 146,977,044 | 147,040,934 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis |
|---|---|---|---|---|
| nssv18326479 | copy number loss | CNV-1-FMR1 | Oligo aCGH | Probe signal intensity |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18326479 | Remapped | Good | NC_000023.11:g.(?_ 147895526)_(147959 414_?)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 147,895,526 | 147,959,414 |
| nssv18326479 | Submitted genomic | NC_000023.10:g.(?_ 146977044)_(147040 934_?)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 146,977,044 | 147,040,934 |