nsv4386318
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:128,312
- Publication(s):Zarrei et al. 2019
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: 1142 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 1143 SVs from 50 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4386318 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 2,315,354 | 2,443,665 |
| nsv4386318 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 2,233,395 | 2,361,706 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15636031 | copy number gain | 13-0095-004 | SNP array | Genotyping | 24 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15636031 | Remapped | Perfect | NC_000023.11:g.(?_ 2315354)_(2443665_ ?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 2,315,354 | 2,443,665 |
| nssv15636031 | Submitted genomic | NC_000023.10:g.(?_ 2233395)_(2361706_ ?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 2,233,395 | 2,361,706 |