nsv6634051
- 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:186,044
- 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: 553 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 554 SVs from 35 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6634051 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 38,273,982 | 38,460,025 |
| nsv6634051 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 38,133,235 | 38,319,278 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18300948 | duplication | OSC5540 | SNP array | Probe signal intensity | nssv18300340, nssv18300339, nssv18301239 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18300948 | Remapped | Perfect | NC_000023.11:g.(?_ 38273982)_(3846002 5_?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 38,273,982 | 38,460,025 |
| nssv18300948 | Submitted genomic | NC_000023.10:g.(?_ 38133235)_(3831927 8_?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 38,133,235 | 38,319,278 |