nsv3118378
- Organism: Homo sapiens
- Study:nstd149 (Gambin et al. 2017)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:95,469
- Publication(s):Gambin et al. 2017
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: 555 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 556 SVs from 33 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3118378 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 23,251,335 | 23,346,803 |
| nsv3118378 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 23,269,452 | 23,364,920 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis |
|---|---|---|---|---|
| nssv14109467 | copy number loss | PTCHD1_Pt1 | Oligo aCGH | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14109467 | Remapped | Perfect | NC_000023.11:g.(?_ 23251335)_(2334680 3_?)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 23,251,335 | 23,346,803 |
| nssv14109467 | Submitted genomic | NC_000023.10:g.(?_ 23269452)_(2336492 0_?)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 23,269,452 | 23,364,920 |