nsv4380293
- 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:37,496
- 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: 444 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 440 SVs from 41 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4380293 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 76,893,227 | 76,930,722 |
| nsv4380293 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 76,113,652 | 76,151,147 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15672412 | copy number loss | 9-0004-001 | SNP array | Genotyping | 25 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15672412 | Remapped | Perfect | NC_000023.11:g.(?_ 76893227)_(7693072 2_?)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 76,893,227 | 76,930,722 |
| nssv15672412 | Submitted genomic | NC_000023.10:g.(?_ 76113652)_(7615114 7_?)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 76,113,652 | 76,151,147 |