nsv4384943
- 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:266,109
- 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: 2668 SVs from 112 studies. See in: genome view
Overlapping variant regions from other studies: 2668 SVs from 112 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4384943 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 25,260,271 | 25,526,379 |
| nsv4384943 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 25,656,238 | 25,922,346 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15633106 | copy number gain | 10-1118-001 | SNP array | Genotyping | 17 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15633106 | Remapped | Perfect | NC_000022.11:g.(?_ 25260271)_(2552637 9_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 25,260,271 | 25,526,379 |
| nssv15633106 | Submitted genomic | NC_000022.10:g.(?_ 25656238)_(2592234 6_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 25,656,238 | 25,922,346 |