nsv4373516
- 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:55,017
- 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: 652 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 653 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4373516 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 22,916,665 | 22,971,681 |
| nsv4373516 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 22,934,782 | 22,989,798 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15647527 | copy number loss | 2-0225-001 | SNP array | Genotyping | 21 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15647527 | Remapped | Perfect | NC_000023.11:g.(?_ 22916665)_(2297168 1_?)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 22,916,665 | 22,971,681 |
| nssv15647527 | Submitted genomic | NC_000023.10:g.(?_ 22934782)_(2298979 8_?)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 22,934,782 | 22,989,798 |